MedWorm.com provides a medical RSS filtering service. Over 6000 RSS medical sources are combined and output via different filters. This feed contains the latest items from the 'Neuromuscular Disorders' source. Sun, 21 Mar 2010 15:31:37 +0100 http://www.medworm.com/index.php?rid=3368140&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896610000933%2Fabstract%3Frss%3Dyes (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3368140 Mon, 01 Mar 2010 00:00:00 +0100 3368140 http://www.medworm.com/index.php?rid=3368139&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896610000921%2Fabstract%3Frss%3Dyes (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3368139 Mon, 01 Mar 2010 00:00:00 +0100 3368139 http://www.medworm.com/index.php?rid=3368138&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896610000891%2Fabstract%3Frss%3Dyes (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3368138 Mon, 01 Mar 2010 00:00:00 +0100 3368138 http://www.medworm.com/index.php?rid=3368137&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS096089661000088X%2Fabstract%3Frss%3Dyes (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3368137 Mon, 01 Mar 2010 00:00:00 +0100 3368137 http://www.medworm.com/index.php?rid=3368136&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896610000878%2Fabstract%3Frss%3Dyes (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3368136 Mon, 01 Mar 2010 00:00:00 +0100 3368136 http://www.medworm.com/index.php?rid=3368135&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006622%2Fabstract%3Frss%3Dyes “Quantitative muscle ultrasound in childhood neuromuscular disorders”, the doctoral thesis by Sigrid Pillen provides a comprehensive account of the current and future role of (quantitative) muscle ultrasound (US) in the diagnosis of childhood (and adult) neuromuscular disease and will benefit both the physician with previous experience applying this technique as well as newcomers to the field. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3368135 Mon, 01 Mar 2010 00:00:00 +0100 3368135 http://www.medworm.com/index.php?rid=3368134&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006610%2Fabstract%3Frss%3Dyes I found this multi-author text a very useful reference work. The first chapter deals with the generalities of neuro-pharmacology and subsequent chapters are system-orientated e.g. movement disorders, epilepsy, migraine etc. Each chapter is organised fairly consistently along the lines of basic science, clinical features and treatment including dosage regimes (not consistent) and a description of potential side effects. I particularly enjoyed the chapters on epilepsy and neuro-muscular disease. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3368134 Mon, 01 Mar 2010 00:00:00 +0100 3368134 http://www.medworm.com/index.php?rid=3368133&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896610000465%2Fabstract%3Frss%3Dyes Richard Edwards died suddenly on 5th December at his home in Snowdonia, North Wales. He was one of the early pioneers in the field of Neuromuscular medicine and made an enormous contribution to the Neuromuscular field through his research and he was also passionate in ensuring that his patients had the best possible clinical care. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3368133 Mon, 01 Mar 2010 00:00:00 +0100 3368133 http://www.medworm.com/index.php?rid=3368132&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896610000672%2Fabstract%3Frss%3Dyes In relation to the supportive management of Duchenne dystrophy with KAFOs and Corticosteroids, I think there is a major problem with the opinion of experts without personal clinical experience. They may get it wrong. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3368132 Mon, 01 Mar 2010 00:00:00 +0100 3368132 http://www.medworm.com/index.php?rid=3368131&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896610000660%2Fabstract%3Frss%3Dyes I personally find the prednisone dosage recommended in the Lancet Neurology article extremely high. Consider this scene: a DMD boy, 5years old. How can one give him 0.75mg/kg/day of prednisone continuously for say 10–15years? I have noted that the paper mentions reducing by 25–33% if necessary, but still in the long run it may turn out to be a health hazard. Some clinicians advocate lower dosages, and our group has been one of them. We were able to prolong ambulation and prevent scoliosis in a group of children with DMD with a 0.75mg/kg alternate day regimen . (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3368131 Mon, 01 Mar 2010 00:00:00 +0100 3368131 http://www.medworm.com/index.php?rid=3368130&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896610000659%2Fabstract%3Frss%3Dyes The jury is still out on the issue of the timing of starting steroids for patients with Duchenne muscular dystrophy (DMD). Glucocorticoid therapy is an effective therapy to slow the progression of this relentlessly progressive disease. Ideally, if corticosteroids were without side effects, they would be initiated as soon as the diagnosis of DMD is certain. However, as long term corticosteroid therapy is associated with significant side effects, that in turn negatively impact motor function and cardiopulmonary health (in particular endocrine complications of growth suppression, insulin resistance (weight gain) and steroid induced osteopenia), many providers in the past delay the initiation of steroids till there is obvious decline/loss of motor function (“about to go off the feet stage”... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3368130 Mon, 01 Mar 2010 00:00:00 +0100 3368130 http://www.medworm.com/index.php?rid=3368129&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896610000647%2Fabstract%3Frss%3Dyes These documents published in Lancet Neurology January 2010 will help families, DMD centers, care providers and clinicians consider their areas of DMD care that may not otherwise include some of these recommendations. Referrals to other specialists may be an important response to these “care guidelines” and will facilitate both specialists and insurance carriers to consider these recommendations. A dedicated primary doctor is needed to help families coordinate and understand the complex and vital care needed for a family and son(s) touched by a dystrophin mutation. Invariably families must maintain a copy of their own medical records and bring to their appointments. One critical question asked by families is, “Who is keeping track of all this multidisciplinary, comprehensive care with... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3368129 Mon, 01 Mar 2010 00:00:00 +0100 3368129 http://www.medworm.com/index.php?rid=3368128&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896610000635%2Fabstract%3Frss%3Dyes The authors of the Lancet article have clearly put in a great deal of hard work and effort in order to produce their extensive document outlining care guidelines for DMD. However, the recent editorial by Professor Dubowitz highlights some very important considerations. There is no doubt that an article such as the Lancet care pathway will influence commissioners who ultimately hold the purse strings for service development. The DMD care pathway is complex and aims to make recommendations for all eventualities. Because of the dearth of good quality scientific research the authors have used a novel consensus approach to arrive at a conclusion for best practice. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3368128 Mon, 01 Mar 2010 00:00:00 +0100 3368128 http://www.medworm.com/index.php?rid=3368127&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896610000623%2Fabstract%3Frss%3Dyes The Lancet Neurology review is a reflection onhow treatment and care of Duchenne dystrophy has been performed in the past and how selected publications about specific aspects of care are judged by panels of experts using the Rand method. Parents hope that care will be better in the near future, or even now, than what is described in this publication. It suggests that over 80 experts in the field developed these recommendations. While the community appreciates this investment of time and talent, there is some concern that consensus in Duchenne tends to end up somewhere in the middle. Duchenne is progressive. Each day muscle cells are lost, resulting in decline in function and subsequent compromise of activities of daily life. Care must be proactive – preventive, anticipatory and individua... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3368127 Mon, 01 Mar 2010 00:00:00 +0100 3368127 http://www.medworm.com/index.php?rid=3368126&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896610000611%2Fabstract%3Frss%3Dyes The following letters to the editor have been received in response to the editorial in the February issue of Neuromuscular Disorders (1) in relation to the review in the January 2010 issue of Lancet Neurology on management of Duchenne dystrophy (2). (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3368126 Mon, 01 Mar 2010 00:00:00 +0100 3368126 http://www.medworm.com/index.php?rid=3368125&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896610000076%2Fabstract%3Frss%3Dyes (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3368125 Mon, 01 Mar 2010 00:00:00 +0100 3368125 http://www.medworm.com/index.php?rid=3368124&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896610000064%2Fabstract%3Frss%3Dyes (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3368124 Mon, 01 Mar 2010 00:00:00 +0100 3368124 http://www.medworm.com/index.php?rid=3368123&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006579%2Fabstract%3Frss%3Dyes The nosography developed in the mid XIXth century was that of neuromuscular diseases. Many disorders were confused among the vast group of muscular atrophies. Gradually, the following diseases were distinguished among others: infantile paralysis, amyotrophic lateral sclerosis, labio-glosso-laryngé paralysis… French doctors Charcot, Duchenne de Boulogne… and other European doctors: Eulenburg, Meryon… participated in this heroic march forward of neurology. One name remains unknown to these neurologists and anatomopathologists: Alix Joffroy (1844–1908). The anatomopathologist tradition developed at the turn of the XXth century. Joffroy was one whose work led to a big advance in neurology by contributing to the establishment of the first foundations of modern spinal anatomopathology. ... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3368123 Mon, 01 Mar 2010 00:00:00 +0100 3368123 http://www.medworm.com/index.php?rid=3368122&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896610000192%2Fabstract%3Frss%3Dyes We describe a 62-year-old woman with chronic progressive external ophthalmoplegia (CPEO), multiple lipomas, diabetes mellitus, and a novel mitochondrial DNA (mtDNA) mutation at nucleotide 4302 (4302A>G) of the tRNAIle gene (MTTI). This is the first mutation at position 44 in the variable loop (V loop) of any mitochondrial tRNA.The muscle biopsy revealed 10% ragged-red/ragged-blue fibers and 25% cytochrome c oxidase (COX)-deficient fibers.No deletions or duplications were detected by Southern blot analysis. The 4302A>G transition was present only in the patient’s muscle and single-fiber analysis revealed significantly higher levels of the mutation in COX-deficient than in normal fibers. Like tRNALeu(UUR), tRNAIle appears to be a “hot spot” for mtDNA mutations causing CPEO. (Source: Ne... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3368122 Mon, 01 Mar 2010 00:00:00 +0100 3368122 http://www.medworm.com/index.php?rid=3368121&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS096089660900697X%2Fabstract%3Frss%3Dyes We describe a patient with two novel TK2 mutations, which caused disease onset shortly after birth and death at the age of three months. One mutation (219insCG) generated an early stop codon, thus preventing the synthesis of a functional protein. The second mutation (R130W) resulted in an amino acid substitution, which caused a severe reduction ( (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3368121 Mon, 01 Mar 2010 00:00:00 +0100 3368121 http://www.medworm.com/index.php?rid=3368120&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896610000180%2Fabstract%3Frss%3Dyes Abstract: Dermatomyositis and vasculitic neuropathies are disorders with immune mediated ischemic injuries. Cellular responses to hypoxia include the hypoxia-inducible factor-1 (HIF-1)-induced transcription of genes involved in angiogenesis. To study their possible roles in those disorders, the immunohistochemical expression of HIF-1α, HIF-1β, HIF-2α, vascular endothelial growth factor (VEGF), VEGF-receptor (VEGF-R) and erythropoietin-receptor was investigated. Cases of normal nerves, diabetic neuropathy, normal muscles, polymyositis and inclusion-body-myositis served as controls. The latter were chosen because they represent comparable inflammatory disorders, however, in these ischemia/hypoxia is not supposed to play such a prominent pathogenetic role.Hypoxia-related proteins were not ... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3368120 Mon, 01 Mar 2010 00:00:00 +0100 3368120 http://www.medworm.com/index.php?rid=3368119&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896610000039%2Fabstract%3Frss%3Dyes The objective of this case study was to characterize autoreactivity in two patients with non-autoimmune forms of muscle disease who had positivity for antinuclear antibodies (ANA) and Ro (SSA) autoantibodies. Serum samples from these two patients were applied to an autoantigen protein array with more than 70 specificities and were compared to samples from healthy controls and patients with systemic lupus erythematosus. Both myopathy patients had high levels of gliadin autoreactivity in serum and one patient had an overall autoantibody profile with lupus-like features. The findings suggest that some disorders of muscle that are considered non-autoimmune, may in fact have autoimmune features. Further examination of the role of subclinical gluten autoreactivity in the pathogenesis of myopathy... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3368119 Mon, 01 Mar 2010 00:00:00 +0100 3368119 http://www.medworm.com/index.php?rid=3368118&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896610000027%2Fabstract%3Frss%3Dyes We report a five generation Uruguayan family with severe cardiomyopathy and skeletal myopathy. Its most striking features are: atrial dilation, arrhythmia, conduction block and sudden death due to conduction impairment. Affected skeletal muscle shows alteration of mitochondria with paracrystallin inclusions and granulofilamentous material scattered in the muscle fibres. This family carries an unusual deletion p.E114del within the 1A rod domain of desmin. Transfected cells expressing the mutated desmin show punctuated and speckled cytoplasmic aggregates. The mutation causes a local conformational change in heptads a/d residues and charge positions. These findings lead to the hypothesis that coiled-coil interactions may be impaired, resulting in severe alterations in the desmin network. This... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3368118 Mon, 01 Mar 2010 00:00:00 +0100 3368118 http://www.medworm.com/index.php?rid=3368117&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609007019%2Fabstract%3Frss%3Dyes We report the case of 14-year-old boy with X-linked Emery–Dreifuss muscular dystrophy who developed sick sinus syndrome and required placement of an implantable intracardiac cardioverter-defibrillator (ICD) to prevent sudden death. He demonstrated no significant risk factors for sudden death such as depressed left ventricular ejection fraction, or spontaneous or inducible ventricular tachycardia. One month after implantation, the patient experienced one appropriate ICD discharge. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3368117 Mon, 01 Mar 2010 00:00:00 +0100 3368117 http://www.medworm.com/index.php?rid=3368116&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609007160%2Fabstract%3Frss%3Dyes We report a 35-year-old woman presenting with signs and symptoms of a congenital myopathy at birth and repeated episodes of generalized, atypical normokalaemic paralysis in her late teens. Genetic studies of this patient revealed three heterozygous RYR1 substitutions (p.Arg2241X, p.Asp708Asn and p.Arg2939Lys) associated with marked reduction of the RyR1 protein and abnormal DHPR distribution. We conclude that RYR1 mutations may give rise to both myopathies and atypical periodic paralysis, and RYR1 mutations may underlie other unresolved cases of periodic paralysis with unusual features. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3368116 Mon, 01 Mar 2010 00:00:00 +0100 3368116 http://www.medworm.com/index.php?rid=3368115&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006968%2Fabstract%3Frss%3Dyes Abstract: Clinical research visits are challenging for people with SMA because of limited mobility and intercurrent illnesses. Missing data threaten the validity of research results. Obtaining outcomes remotely would represent a solution. To evaluate reliability of telephone administration of the PedsQL™ Pediatric Generic Core Quality of Life Inventory™ 4.0 (Generic) and Neuromuscular Module™ 3.0 (NM) in SMA, we recruited 21 participants of a Natural History Study for telephone administration of both modules no more than 7days before or after an in-person study visit. We found excellent reliability between telephone and in-person administration of both modules with the NM slightly better than the Generic. Reliability of the child and parent forms was similar. We concluded that both m... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3368115 Mon, 01 Mar 2010 00:00:00 +0100 3368115 http://www.medworm.com/index.php?rid=3368114&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006981%2Fabstract%3Frss%3Dyes Abstract: The motor skills of patients with spinal muscular atrophy, type I (SMA-I) are very limited. It is difficult to quantify the motor abilities of these patients and as a result there is currently no validated measure of motor function that can be utilized as an outcome measure in clinical trials of SMA-I. We have developed the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (“CHOP INTEND”) to evaluate the motor skills of patients with SMA-I. The test was developed following the evaluation of 26 infants with SMA-I mean age 11.5months (1.4–37.9months) with the Test of Infant Motor Performance and The Children’s Hospital of Philadelphia Test of Strength in SMA, a newly devised motor assessment for SMA. Items for the CHOP INTEND were selected by an e... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3368114 Mon, 01 Mar 2010 00:00:00 +0100 3368114 http://www.medworm.com/index.php?rid=3368113&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896610000842%2Fabstract%3Frss%3Dyes (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3368113 Mon, 01 Mar 2010 00:00:00 +0100 3368113 http://www.medworm.com/index.php?rid=3226010&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896610000428%2Fabstract%3Frss%3Dyes (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3226010 Mon, 01 Feb 2010 00:00:00 +0100 3226010 http://www.medworm.com/index.php?rid=3226009&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896610000416%2Fabstract%3Frss%3Dyes (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3226009 Mon, 01 Feb 2010 00:00:00 +0100 3226009 http://www.medworm.com/index.php?rid=3226008&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896610000386%2Fabstract%3Frss%3Dyes (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3226008 Mon, 01 Feb 2010 00:00:00 +0100 3226008 http://www.medworm.com/index.php?rid=3226007&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896610000374%2Fabstract%3Frss%3Dyes (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3226007 Mon, 01 Feb 2010 00:00:00 +0100 3226007 http://www.medworm.com/index.php?rid=3226006&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896610000362%2Fabstract%3Frss%3Dyes (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3226006 Mon, 01 Feb 2010 00:00:00 +0100 3226006 http://www.medworm.com/index.php?rid=3226005&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006932%2Fabstract%3Frss%3Dyes With the growing interest in day-to-day measures of value to patients, it may be of help to understand what goes through the minds of those who live with dystrophy every day. We don’t think about 6MWT or the density on an MRI. It is much more practical than that. It is falling, broken bones, struggling to breathe, watching one ability after another vanish. As a scientist, I think in equations, models, variables, and predictability. I want to, and can, describe dystrophy in this sort of sterile way. I do think about dystrophy that way. But, I feel it very differently as I watch one muscle after the other decay and vanish. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3226005 Mon, 01 Feb 2010 00:00:00 +0100 3226005 http://www.medworm.com/index.php?rid=3226004&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006658%2Fabstract%3Frss%3Dyes This article investigates to what extent patient advocacy organisations play a role in influencing R&D and policymaking for rare neuromuscular diseases. The Dutch neuromuscular disease organisation VSN is studied in depth. A brief history of the VSN is sketched along with the international embedding of the organisation. Then, a more general perspective is provided on the reasons and extent of the involvement of patient organisations (and especially the VSN) in innovation processes. Lastly, internal mechanisms are presented that can best be applied by these organisations. The VSN adheres to a rare, long-term vision on drug innovation that requires long-term planning and policy and vision creation and steering the direction of science and technology. At the same time, other actors like scien... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3226004 Mon, 01 Feb 2010 00:00:00 +0100 3226004 http://www.medworm.com/index.php?rid=3226003&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006853%2Fabstract%3Frss%3Dyes This first MRC workshop on inclusion body myositis assembled 29 clinicians and scientists. The workshop sought to establish a platform upon which an organised international network of neuromuscular specialists could consider a range of important unresolved issues in relation to IBM. The aims of the workshop were as follows: to review current practice regarding clinical and histopathological diagnostic criteria, to assess recent advances in relation to aetiology and basic science with potential for translation into clinical trials, to review current evidence for IBM treatments and lessons applicable to future trial design, to review genetic advances in IBM and to consider an IBM disease-specific prospective database in an electronic network. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3226003 Mon, 01 Feb 2010 00:00:00 +0100 3226003 http://www.medworm.com/index.php?rid=3226002&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609007172%2Fabstract%3Frss%3Dyes This report highlights the unusual combination of a genetically confirmed incontinentia pigmenti and a proximal myopathy and dilatative cardiomyopathy of unknown origin. We discuss that the striated muscle involvement (i) might be based on the observed intragenic deletion of the NEMO gene, or (ii) on an additional gene defect leading to an adult onset myopathy. Further studies on neuromuscular involvement in patients with incontinentia pigmenti are needed to clarify this issue. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3226002 Mon, 01 Feb 2010 00:00:00 +0100 3226002 http://www.medworm.com/index.php?rid=3226001&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006919%2Fabstract%3Frss%3Dyes We present a 13-year-old girl with Griscelli syndrome type 2, who developed a hemophagocytic syndrome along with marked muscle weakness and elevated plasma creatine kinase. Muscle biopsy showed massive inflammatory changes in some fascicles, while other fascicles were relatively spared. Clinical symptoms and biopsy changes resolved after immunosuppression and allogeneic hematopoietic cell transplantation. Our results suggest that muscle involvement should be considered in patients with hemophagocytic syndrome to ensure proper treatment. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3226001 Mon, 01 Feb 2010 00:00:00 +0100 3226001 http://www.medworm.com/index.php?rid=3226000&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006634%2Fabstract%3Frss%3Dyes We present the clinical, biochemical and molecular genetic data in a young girl whose clinical picture is dominated by chronic renal failure, myopathy and persistent lactic acidosis. An isolated complex I deficiency in muscle was identified due to a novel mutation (m.12425delA) in the MTND5 gene. This single nucleotide deletion is heteroplasmic and detectable in several tissues from the proband but not her mother, suggesting a de novo mutation event. The description of the first frameshift mutation in a mitochondrial complex I gene affirms mitochondrial DNA mutations as an important cause of isolated complex I deficiency in children and the importance of whole mitochondrial genome sequencing in the diagnostic work-up to elucidate the underlying molecular genetic abnormality and provide imp... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3226000 Mon, 01 Feb 2010 00:00:00 +0100 3226000 http://www.medworm.com/index.php?rid=3225999&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006889%2Fabstract%3Frss%3Dyes Abstract: The authors describe a 50-year-old man who was evaluated for a rigid spine syndrome with onset at age 15, and subsequent walking difficulties. Cardiac and pulmonary functions were normal. Deltoid biopsy revealed the presence of small vacuoles and increased glycogen with Periodic Acid Schiff staining in a limited number of fibers. Acid α-glucosidase staining was decreased in leucocytes, and genetic analysis identified the presence of two mutations in that gene. This observation suggests that Pompe disease should be considered in the differential diagnosis of rigid spine syndrome, even in patients without respiratory involvement or with a muscle biopsy showing only mild histopathological changes. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3225999 Mon, 01 Feb 2010 00:00:00 +0100 3225999 http://www.medworm.com/index.php?rid=3225998&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006865%2Fabstract%3Frss%3Dyes This report supports the concept that PHK deficiency is a mild metabolic myopathy and suggests that PHK mutations may interfere with normal brain function. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3225998 Mon, 01 Feb 2010 00:00:00 +0100 3225998 http://www.medworm.com/index.php?rid=3225997&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006877%2Fabstract%3Frss%3Dyes Abstract: Two siblings were evaluated for progressive proximal weakness and elevated creatine kinase. Immunohistochemical staining in the brother’s muscle biopsy showed near absence of all four sarcoglycan subunits. Clinical progression prompted a trial of deflazacort in both siblings. At 22months of drug therapy, both patients have stable or improved strength testing. Further analysis on the muscle biopsy revealed homozygous β-sarcoglycan gene mutation (S114F), consistent with the limb-girdle muscular dystrophy type 2E (LGME 2E). Despite the severe phenotype, deflazacort has a beneficial effect on slowing disease progression in LGME 2E similar to that seen in Duchenne muscular dystrophy. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3225997 Mon, 01 Feb 2010 00:00:00 +0100 3225997 http://www.medworm.com/index.php?rid=3225996&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609007007%2Fabstract%3Frss%3Dyes Abstract: Glucocorticoids are beneficial in many muscular dystrophies but they are ineffective in treating dysferlinopathy, a rare muscular dystrophy caused by loss of dysferlin. We sought to understand the molecular basis for this disparity by studying the effects of a glucocorticoid on differentiation of the myoblast cell line, C2C12, and dysferlin-deficient C2C12s. We found that pharmacologic doses of dexamethasone enhanced the myogenic fusion efficiency of C2C12s and increased the induction of dysferlin, along with specific myogenic transcription factors, sarcolemmal and structural proteins. In contrast, the dysferlin-deficient C2C12 cell line demonstrated a reduction in long myotubes and early induction of particular muscle differentiation proteins, most notably, myosin heavy chain. D... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3225996 Mon, 01 Feb 2010 00:00:00 +0100 3225996 http://www.medworm.com/index.php?rid=3225995&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS096089660900666X%2Fabstract%3Frss%3Dyes We describe here the methodical, cooperative comparison, in vitro (in DMD cells) and in vivo (in a transgenic mouse expressing human dystrophin), of 24 AOs of the phosphorodiamidate morpholino oligomer (PMO) chemistry designed to target exon 53 of the DMD gene, skipping of which could be potentially applicable to 8% of patients. A number of the PMOs tested should be considered worthy of development for clinical trial. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3225995 Mon, 01 Feb 2010 00:00:00 +0100 3225995 http://www.medworm.com/index.php?rid=3225994&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006920%2Fabstract%3Frss%3Dyes Abstract: Ca2+ ions are key regulators of skeletal muscle contraction. By binding to contractile proteins, they initiate a cascade of molecular events leading to cross-bridge formation and ultimately, muscle shortening and force production. The ability of contractile proteins to respond to Ca2+ attachment, also known as Ca2+ sensitivity, is often compromised in acquired and congenital skeletal muscle disorders. It constitutes, undoubtedly, a major physiological cause of weakness for patients. In this review, we discuss recent studies giving strong molecular and cellular evidence that pharmacological modulators of some of the contractile proteins, also termed Ca2+ sensitizers, are efficient agents to improve Ca2+ sensitivity and function in diseased skeletal muscle cells. In fact, they comp... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3225994 Mon, 01 Feb 2010 00:00:00 +0100 3225994 http://www.medworm.com/index.php?rid=3225993&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896610000441%2Fabstract%3Frss%3Dyes From time to time we have had contributions submitted to the Journal, which are of potential interest to our readership but do not quite conform to any existing section of the Journal, either as an original scientific paper or a case report. They are also not appropriate for our correspondence columns, which are focussed mainly on commentary on papers published in the Journal. Some of these have been by scientists or clinicians who personally have a neuromuscular disorder, and are comparable to the personal experience documented by physicians from time to time in general medical journals. Other contributions that are equally difficult to place are from patient advocacy groups. I recalled how revealing and educational it was for the clinicians some years ago when I was Therapeutics Director... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3225993 Mon, 01 Feb 2010 00:00:00 +0100 3225993 http://www.medworm.com/index.php?rid=3225992&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS096089661000043X%2Fabstract%3Frss%3Dyes On Friday December 4th 2009, the Network of Excellence, TREAT-NMD, issued a press release (by E-mail), drawing attention to a major review article published simultaneously online in Lancet Neurology, providing guidelines on clinical care in Duchenne muscular dystrophy. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3225992 Mon, 01 Feb 2010 00:00:00 +0100 3225992 http://www.medworm.com/index.php?rid=3225991&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896610000337%2Fabstract%3Frss%3Dyes (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3225991 Mon, 01 Feb 2010 00:00:00 +0100 3225991 http://www.medworm.com/index.php?rid=3183809&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896610000052%2Fabstract%3Frss%3Dyes (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3183809 Fri, 01 Jan 2010 00:00:00 +0100 3183809 http://www.medworm.com/index.php?rid=3183808&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896610000040%2Fabstract%3Frss%3Dyes (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3183808 Fri, 01 Jan 2010 00:00:00 +0100 3183808 http://www.medworm.com/index.php?rid=3183807&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609007135%2Fabstract%3Frss%3Dyes (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3183807 Fri, 01 Jan 2010 00:00:00 +0100 3183807 http://www.medworm.com/index.php?rid=3183806&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609007123%2Fabstract%3Frss%3Dyes (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3183806 Fri, 01 Jan 2010 00:00:00 +0100 3183806 http://www.medworm.com/index.php?rid=3183805&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609007111%2Fabstract%3Frss%3Dyes (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3183805 Fri, 01 Jan 2010 00:00:00 +0100 3183805 http://www.medworm.com/index.php?rid=3183804&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006944%2Fabstract%3Frss%3Dyes (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3183804 Fri, 01 Jan 2010 00:00:00 +0100 3183804 http://www.medworm.com/index.php?rid=3183803&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006841%2Fabstract%3Frss%3Dyes The commentary by Shelton and Engvall (Neuromusc. Disorders 2009;19:800–1) on Ambrosio et al. are very pertinent and we agree with them. This paper was written and sent to publication without the knowledge of our group at the Human Genome Research Center. Our contribution to this paper was the genotyping of the dogs. The small sample of only 15 dogs included in this manuscript is indeed not representative of the 77 affected dogs born in this kennel to date. As far as we could observe, all dogs received comparable care during the postnatal period or afterwards and therefore the variable phenotype is probably not caused by differences in animal care. However, there are several other important errors in this report, regarding literature citation and interpretation, analysis of the data and ... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3183803 Fri, 01 Jan 2010 00:00:00 +0100 3183803 http://www.medworm.com/index.php?rid=3183802&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006646%2Fabstract%3Frss%3Dyes Abstract: Of the various genetic homologues to Duchenne Muscular Dystrophy (DMD), the Golden Retriever Muscular Dystrophy (GRMD) dog, which presents a variable but usually severe and progressive muscle weakness, has the closest relevance to DMD in both clinical severity and histopathological change. Among 77 GRMD dogs born in our colony in Brazil, we have identified a very mildly affected dog, Ringo, born July 2003. Among his descendants, at least one male, Suflair, is also showing a mild course. In an attempt to better characterize these two dogs, we studied the pattern of muscle proteins expression in Ringo and Suflair, as compared to severely affected and normal control dogs. Dystrophin was absent in both and utrophin was overexpressed in a pattern similar to the observed in severely af... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3183802 Fri, 01 Jan 2010 00:00:00 +0100 3183802 http://www.medworm.com/index.php?rid=3183801&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005860%2Fabstract%3Frss%3Dyes We describe for the first time a case of a 9-year old boy with co-existence of dystrophinopathy and Noonan syndrome (NS). Although the patient has a severe muscular clinical phenotype, consistent with Duchenne muscular dystrophy (DMD), the diagnosis of Becker muscular dystrophy (BMD) was proposed based on family history (brother with BMD) and confirmed by muscle immunohistochemistry, and molecular study shown an in-frame DMD gene mutation. The patient also fulfilled the clinical criteria of NS and he harbors a hotspot mutation on PTPN11 gene. This genetic combination may be an explanation for the variability of clinical expression in the family. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3183801 Fri, 01 Jan 2010 00:00:00 +0100 3183801 http://www.medworm.com/index.php?rid=3183800&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005847%2Fabstract%3Frss%3Dyes Abstract: Dysferlinopathies are autosomal recessive muscular dystrophies caused by DYSF mutations, which lead to a reduced amount or a complete lack of dysferlin. One step in dysferlinopathies diagnosis consists in Western blot analysis of proteins extracted from muscle biopsy, or blood monocytes. We have taken advantage of dysferlin expression in monocytes to develop a whole blood flow cytometry (WBFC), using antibodies directed against dysferlin. Six patients were submitted to WBFC analysis and immunofluorescence analysis on monocytes. Results obtained are correlated to Western blot from monocytes and muscle biopsies. The possible usefulness of this flow cytometry analysis in routine diagnosis is presented. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3183800 Fri, 01 Jan 2010 00:00:00 +0100 3183800 http://www.medworm.com/index.php?rid=3183799&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006592%2Fabstract%3Frss%3Dyes We report a family with autosomal dominant centronuclear (myotubular) myopathy caused by a novel mutation, p.A618D, in dynamin 2 (DNM2). The 64-year-old mother and 26-year-old daughter had neonatal onset with hypotonia and weak suckling, followed by improvement, then slowly progressive muscle weakness and respiratory restriction. Muscle biopsy showed radial sarcoplasmic strands around the frequent central nuclei. Electrophysiology revealed predominantly myopathic patterns without peripheral nerve involvement. Centronuclear myopathy with neonatal onset caused by a DNM2 mutation in the C-terminal part of the pleckstrin homology domain may have a favorable prognosis and follow a course similar to adult-onset centronuclear myopathy. We advise respiratory follow-up in these patients. (Source: N... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3183799 Fri, 01 Jan 2010 00:00:00 +0100 3183799 http://www.medworm.com/index.php?rid=3183798&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006580%2Fabstract%3Frss%3Dyes We report a girl presenting from birth with hypotonia, respiratory and feeding difficulties. Motor development was delayed and at 9years she lost the ability to walk. She had ptosis, external ophthalmoplegia and bilateral cataracts. Muscle biopsy showed increase in central nuclei with type 1 hypotrophy and fibrosis. DNM2 screening revealed a novel heterozygous substitution (c.1862T>C; p.Leu621Pro) affecting the PH domain of the protein. Her further course was progressive and at 14years she died from respiratory failure. Our findings expand the phenotypical spectrum associated with DNM2 mutations and provide a new clinical indicator for involvement of this gene in patients with centronuclear myopathy. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3183798 Fri, 01 Jan 2010 00:00:00 +0100 3183798 http://www.medworm.com/index.php?rid=3183797&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006671%2Fabstract%3Frss%3Dyes This study provides a rationale for future therapeutic trials on the effect of CoQ10 supplementation in patients with mitochondrial diseases presenting with myopathy among clinical features. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3183797 Fri, 01 Jan 2010 00:00:00 +0100 3183797 http://www.medworm.com/index.php?rid=3183796&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006907%2Fabstract%3Frss%3Dyes Abstract: The aims of this study were to evaluate muscle strength, functional abilities, contractures and Forced Vital Capacity in a population of 54 spinal muscular atrophy (SMA) type II patients between the ages of 5 and 70, and to evaluate the applicability of conventional assessment methods.The patients were evaluated by means of functional scales, muscles tests, joint motion measurement and Forced Vital Capacity test.There was a significant score difference in functional tests and muscle tests as well as in the sum of contractures between younger individuals (⩽20years) and older individuals (⩾21years).The functional scales were not sensitive enough to differentiate among the most impaired persons. A reduced Manual Muscle Test score of the upper limbs was found to differentiate mor... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3183796 Fri, 01 Jan 2010 00:00:00 +0100 3183796 http://www.medworm.com/index.php?rid=3183795&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005938%2Fabstract%3Frss%3Dyes Abstract: In the present study we measured the levels of protein carbolnyls and the H and L subunits of ferritin in three hind limb muscles, [Extensor digitorum longus, Tibialis anterior and Soleus] of transgenic rats bearing the G93A hmSOD1 gene and of their non-transgenic littermates. All of the muscles from the transgenic animals showed significantly higher protein carbonyl levels, compared to the respective muscles from control non-transgenic animals. In two muscles (Tibialis anterior and Soleus) from transgenic rats, both L and H subunits of ferritin were upregulated. Moreover, we observed that the electrophoretic mobility of both ferritin subunits was retarded which indicates their post-translational modification. Ferritin immunoprecipitation experiments show an increased ubiquitinat... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3183795 Fri, 01 Jan 2010 00:00:00 +0100 3183795 http://www.medworm.com/index.php?rid=3183794&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006543%2Fabstract%3Frss%3Dyes This study demonstrates the beneficial effects of oral spironolactone on cardiac haemodynamics in Sgcd-null mice and its ability to prevent some of the adverse effects of glucocorticoids. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3183794 Fri, 01 Jan 2010 00:00:00 +0100 3183794 http://www.medworm.com/index.php?rid=3183793&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006609%2Fabstract%3Frss%3Dyes Abstract: The goal of this study was to quantify the two-dimensional kinematics of pathologic gait during over-ground walking at a self-selected speed at the stifle (knee) and hock (ankle) joints in six Golden Retriever Muscular Dystrophy (GRMD) dogs and six carrier littermates (controls). We found that GRMD dogs walked significantly slower than controls (p (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3183793 Fri, 01 Jan 2010 00:00:00 +0100 3183793 http://www.medworm.com/index.php?rid=3183792&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006890%2Fabstract%3Frss%3Dyes Abstract: Stem cell therapy holds promise for treating muscle diseases. Although satellite cells regenerate skeletal muscle, they only have a local effect after intra-muscular transplantation. Alternative cell types, more easily obtainable and systemically-deliverable, were therefore sought. Human synovial stem cells (hSSCs) have been reported to regenerate muscle fibres and reconstitute the satellite cell pool. We therefore determined if these cells are able to regenerate skeletal muscle after intra-muscular injection into cryodamaged muscles of Rag2-/γ chain-/C5-mice. We found that hSSCs possess only limited capacity to undergo myogenic differentiation in vitro or to contribute to muscle regeneration in vivo. However, this is enhanced by over-expression of human MyoD1. Interestingly, hS... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3183792 Fri, 01 Jan 2010 00:00:00 +0100 3183792 http://www.medworm.com/index.php?rid=3183791&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609007184%2Fabstract%3Frss%3Dyes It is hard to believe that the Journal is already entering its 20th year; seems like yesterday that we had the launch meeting in Munich in September, 1990 and saw the first issue appearing by mid 1991. We have had another active year and the Journal continues to run at full capacity. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3183791 Fri, 01 Jan 2010 00:00:00 +0100 3183791 http://www.medworm.com/index.php?rid=3183790&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609007081%2Fabstract%3Frss%3Dyes (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3183790 Fri, 01 Jan 2010 00:00:00 +0100 3183790 http://www.medworm.com/index.php?rid=3010546&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006804%2Fabstract%3Frss%3Dyes (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3010546 Fri, 20 Nov 2009 14:37:28 +0100 3010546 http://www.medworm.com/index.php?rid=3010545&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006798%2Fabstract%3Frss%3Dyes (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3010545 Fri, 20 Nov 2009 14:37:28 +0100 3010545 http://www.medworm.com/index.php?rid=3010544&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006786%2Fabstract%3Frss%3Dyes (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3010544 Fri, 20 Nov 2009 14:37:28 +0100 3010544 http://www.medworm.com/index.php?rid=3010543&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005859%2Fabstract%3Frss%3Dyes The 3rd Annual Dysferlin Conference, held from June 2–5, 2009 in Boston, MA, USA, brought together leading scientists and clinicians to discuss recent progress towards understanding and developing a therapy for the dysferlinopathies, Limb Girdle Muscular Dystrophy 2B (LGMD2B) and Miyoshi myopathy. These diseases involve progressive muscle wasting, typically beginning in the late teenage years, and are caused by mutations in the gene encoding dysferlin . Dysferlin is required for repair of muscle fiber membrane tears , but little is known about how this defect contributes to disease pathology or whether dysferlin is also involved in other cellular processes. The conference was sponsored and organized by the Jain Foundation, and participants included 37 invited speakers, 10 additional scie... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3010543 Fri, 20 Nov 2009 14:37:28 +0100 3010543 http://www.medworm.com/index.php?rid=3010542&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005902%2Fabstract%3Frss%3Dyes A workshop entitled Patient Registries and Trial Readiness in Myotonic Dystrophy, jointly sponsored by TREAT-NMD (www.treat-nmd.eu) and the Marigold Foundation (www.marigoldfoundation.org), was held from 12 to 14 June 2009 in Naarden, The Netherlands. The twenty-six participants represented eight countries and included scientists, clinicians, patient representatives and industry. The workshop built on the foundations established in two previous ENMC workshops on myotonic dystrophy and the myotonic dystrophy clinical working group set up by the Marigold Foundation, and took advantage of the tools developed within the TREAT-NMD network for patient registries and outcome measures. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3010542 Fri, 20 Nov 2009 14:37:28 +0100 3010542 http://www.medworm.com/index.php?rid=3010541&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005975%2Fabstract%3Frss%3Dyes We report a case of a 78-year-old woman presenting with progressive proximal muscle weakness mainly to lower limbs and myopathic EMG associated with intravascular large B-cell lymphoma.Muscle biopsy showed myopathic changes, intravascular large B-cell lymphoma but no inflammation or fibre necrosis; the patient’s serum cross-reacted with an unidentified nuclear antigen of approximately 45kDa present in muscle and lymphoma cells.Our case illustrates a myopathy associated with intravascular large B-cell lymphoma probably mediated by antibodies cross-reacting with a nuclear protein expressed by neoplastic cells and normal muscle. The nature of this nuclear antigen remains unidentified. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3010541 Fri, 20 Nov 2009 14:37:28 +0100 3010541 http://www.medworm.com/index.php?rid=3010540&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005872%2Fabstract%3Frss%3Dyes We describe an unusual case of inflammatory myopathy with rimmed vacuoles associated with dropped head syndrome. Muscle biopsy in our patient revealed variations in fiber size with fiber necrosis and regeneration, accompanied by many rimmed vacuoles and areas of endomysial cell infiltration. Electron microscopy demonstrated autophagic vacuoles and tubulofilamentous inclusions. This myopathy can cause dropped head syndrome in a subgroup of patients. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3010540 Fri, 20 Nov 2009 14:37:28 +0100 3010540 http://www.medworm.com/index.php?rid=3010539&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006178%2Fabstract%3Frss%3Dyes This report adds new data concerning the clinical presentations of MPZ mutations. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3010539 Fri, 20 Nov 2009 14:37:27 +0100 3010539 http://www.medworm.com/index.php?rid=3010538&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006531%2Fabstract%3Frss%3Dyes Abstract: A Saudi Arabian family presented with adult onset autosomal dominant progressive external ophthalmoplegia (adPEO) complicated by late onset reversible failure of the CNS, respiratory, hepatic, and endocrine systems. Clinical findings were suggestive of mitochondrial dysfunction and multiple mitochondrial DNA deletions were demonstrated on long range and real time polymerase chain reaction assays but not on Southern blotting. The disorder is caused by a novel heterozygous PEO1 mutation predicting a Leu360Gly substitution in the twinkle protein. The peculiar clinical presentation expands the variable phenotype observed in adPEO and Twinkle gene mutations. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3010538 Fri, 20 Nov 2009 14:37:27 +0100 3010538 http://www.medworm.com/index.php?rid=3010537&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS096089660900652X%2Fabstract%3Frss%3Dyes We describe a patient who presented to a mitochondrial clinic with progressive bilateral ptosis, external opthalmoplegia and increasing difficulty with walking. He had previously been diagnosed with a dominant, demyelinating polyneuropathy due to PMP22 gene duplication and had also developed gout, presenting in acute renal failure, due to an X-linked recessive HPRT gene mutation. Muscle biopsy revealed many COX-deficient fibres which we show contain high levels of a third genetic defect – a novel, mitochondrial tRNALeu(CUN) (MTTL2) gene mutation. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3010537 Fri, 20 Nov 2009 14:37:27 +0100 3010537 http://www.medworm.com/index.php?rid=3010536&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS096089660900594X%2Fabstract%3Frss%3Dyes We report a woman with a very late onset of MNGIE, lacking peripheral neuropathy. Thymidine phosphorylase activity was markedly reduced in cultured fibroblasts, but only mildly reduced in buffy coat, where the defect is usually detected, and plasma thymidine was mildly increased compared to typical MNGIE patients. TYMP/ECGF1 analysis detected two heterozygous mutations, including a novel missense mutation. These findings indicate that a partial loss of thymidine phosphorylase activity may induce a late-onset and incomplete MNGIE phenotype. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3010536 Fri, 20 Nov 2009 14:37:27 +0100 3010536 http://www.medworm.com/index.php?rid=3010535&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006518%2Fabstract%3Frss%3Dyes Abstract: Iron–sulphur cluster deficiency myopathy is caused by a deep intronic mutation in ISCU resulting in inclusion of a cryptic exon in the mature mRNA. ISCU encodes the iron–sulphur cluster assembly protein IscU. Iron–sulphur clusters are essential for most basic redox transformations including the respiratory-chain function. Most patients are homozygous for the mutation with a phenotype characterized by a non-progressive myopathy with childhood onset of early fatigue, dyspnoea and palpitation on trivial exercise. A more severe phenotype with early onset of a slowly progressive severe muscle weakness, severe exercise intolerance and cardiomyopathy is caused by a missense mutation in compound with the intronic mutation. Treatment of cultured fibroblasts derived from three homozy... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3010535 Fri, 20 Nov 2009 14:37:27 +0100 3010535 http://www.medworm.com/index.php?rid=3010534&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006221%2Fabstract%3Frss%3Dyes Abstract: In congenital myasthenic syndrome with DOK7 mutations ephedrine was reported to be beneficial in single patients. We carried out a small, open and prospective cohort study in eight European patients manifesting from birth to 12years. Five patients showed limb-girdle and facial weakness, three a floppy infant syndrome with bulbar symptoms and/or respiratory distress. Ephedrine was started with 25mg/day and slowly increased to 75–100mg/day. Within weeks after starting therapy an improvement was observed in all patients and clinical follow-up disclosed positive effects more pronounced on proximal muscle weakness and strength using MRC scale. Effects on facial weakness were less pronounced. Vital capacity measurements and repetitive stimulation tests did not improve in the same way... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3010534 Fri, 20 Nov 2009 14:37:27 +0100 3010534 http://www.medworm.com/index.php?rid=3010533&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS096089660900618X%2Fabstract%3Frss%3Dyes We report the case of a 43-year-old patient with generalized seronegative myasthenia gravis with negative 3Hz repetitive nerve stimulation at Erb’s point and voluntary single-fibre EMG in the orbicularis oculi. We also performed 6 and 12Hz repetitive nerve stimulation at Erb and stimulated single-fibre EMG in the extensor digitorum communis and our findings were pathological. Our data suggest that, for individual patients with an atypical picture characterised by dissociation between a severe clinical pattern and no definite neurophysiological findings on conventional tests, repetitive nerve stimulation with a stimulation rate higher than 3Hz and/or stimulated single-fibre EMG with an increasing stimulation rate may be helpful. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3010533 Fri, 20 Nov 2009 14:37:27 +0100 3010533 http://www.medworm.com/index.php?rid=3010532&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005963%2Fabstract%3Frss%3Dyes Abstract: Autoimmune myasthenia gravis is a disorder with a complex pathomechanism in which sex hormones, in particular oestrogen, have long been considered to play a role. Here we report the result of a case-control study which evaluated the association of two oestrogen receptor alpha gene polymorphisms with myasthenia gravis in Caucasian patients.PvuII (rs2234693) and XbaI (rs9340799) restriction fragment polymorphisms of the oestrogen receptor alpha gene were analyzed in 113 female myasthenia patients and 184 female controls. Distribution of these polymorphisms was compared with PCR-RFLP. Patients were divided into groups according to their oestrogen receptor alpha genotypes, and acetylcholine receptor antibody status and age of onset were compared between the groups.We found no signifi... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3010532 Fri, 20 Nov 2009 14:37:26 +0100 3010532 http://www.medworm.com/index.php?rid=3010531&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS096089660900621X%2Fabstract%3Frss%3Dyes Abstract: Weakness of ankle dorsiflexion is the cardinal manifestation of CMT. We investigated if a 12-week progressive resistance dorsiflexion strengthening program was feasible, safe and beneficial in a 15-year-old girl with an axonal form of CMT. Training load was based on a dose-escalating percentage of one-repetition maximum, completed on three non-consecutive days each week. Outcomes included dynamometric foot strength, motor function and instrumented walking ability. At 12-weeks, dorsiflexion strength improved 56–72% and plantarflexion strength by 15–20%. Standing long jump increased by 16%, while balance and endurance did not. Walking ability improved for speed, cadence, step time and stride length. Compliance was high and there were no adverse events. This case suggests progre... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3010531 Fri, 20 Nov 2009 14:37:26 +0100 3010531 http://www.medworm.com/index.php?rid=3010530&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006506%2Fabstract%3Frss%3Dyes We report two adult siblings with classic Bethlem myopathy who are compound heterozygous for a single nucleotide deletion (exon 23; c.1770delG), leading to in-frame skipping of exon 23 on the maternal allele, and a missense mutation p.R830W in exon 28 on the paternal allele. The parents are carriers of the respective mutations and are clinically unaffected. The exon skipping mutation in exon 23 results in a chain incapable of heterotrimeric assembly, while p.R830W likely ameliorates the phenotype into the Bethlem range. Thus, autosomal recessive inheritance can also underlie Bethlem myopathy, supporting the notion that Ullrich CMD and Bethlem myopathy are part of a common clinical and genetic spectrum. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3010530 Fri, 20 Nov 2009 14:37:26 +0100 3010530 http://www.medworm.com/index.php?rid=3010529&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006233%2Fabstract%3Frss%3Dyes Abstract: For Phase II and III clinical trials in children with Spinal Muscular Atrophy (SMA), reliable and valid outcome measures are necessary. Since 2000, the American Spinal Muscular Atrophy Randomized Trials (AmSMART) group has established reliability and validity for measures of strength, lung function, and motor function in the population from age 2years to 18years. The PedsQL™ (Pediatric Quality of Life Inventory™) Measurement Model was designed to integrate the relative merits of generic and disease-specific approaches, with disease-specific modules. The PedsQL™ 3.0 Neuromuscular Module was designed to measure HRQOL dimensions specific to children ages 2–18years with neuromuscular disorders, including SMA. One hundred seventy-six children with SMA and their parents complet... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3010529 Fri, 20 Nov 2009 14:37:26 +0100 3010529 http://www.medworm.com/index.php?rid=3010528&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006750%2Fabstract%3Frss%3Dyes (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=3010528 Fri, 20 Nov 2009 14:37:26 +0100 3010528 http://www.medworm.com/index.php?rid=2922008&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006452%2Fabstract%3Frss%3Dyes (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2922008 Sat, 24 Oct 2009 13:28:44 +0100 2922008 http://www.medworm.com/index.php?rid=2922007&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006440%2Fabstract%3Frss%3Dyes (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2922007 Sat, 24 Oct 2009 13:28:44 +0100 2922007 http://www.medworm.com/index.php?rid=2922006&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006439%2Fabstract%3Frss%3Dyes (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2922006 Sat, 24 Oct 2009 13:28:44 +0100 2922006 http://www.medworm.com/index.php?rid=2922005&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005720%2Fabstract%3Frss%3Dyes (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2922005 Sat, 24 Oct 2009 13:28:44 +0100 2922005 http://www.medworm.com/index.php?rid=2922004&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005951%2Fabstract%3Frss%3Dyes In many ways Rehabilitation Medicine is different to many other specialities as it goes beyond the confines of physical disease to address psychological and social impact of their disability to maximise functional outcome. Hence it needs the active participation of a multidisciplinary team and many other professionals. This hand book not only addresses practical advice on the management of common symptoms and specific disorders but also covers physical, psychological social, equipment and organisational issues. As the spectrum of Rehabilitation Medicine is vast, this handbook concentrates predominantly on neuro-rehabilitation but also has important sections on musculoskeletal, age related disorders and amputee care. You could argue for a wider specific neuro-rehabilitation list of topics b... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2922004 Sat, 24 Oct 2009 13:28:44 +0100 2922004 http://www.medworm.com/index.php?rid=2922003&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005768%2Fabstract%3Frss%3Dyes Ten years ago, we reported a family where mother and daughter presented with an atrioventricular block and a slowly progressive distal muscular weakness . The mother developed a severe global heart insufficiency necessitating heart transplantation at 56years of age. Heart and skeletal muscle biopsies were characterised by myofibrillar changes and aggregates strongly expressing desmin and αB-crystallin. An immunoblot showed a normal desmin band at 53kDa and a second band at 49kDa, which was absent in healthy controls. Mitochondrial DNA as well as the respiratory chain enzymatic activities were normal. Genetic analysis at the gene locus of desmin (DES), located at chromosome 2, was not available at that time. These cases illustrated that in this distinct subtype of desminopathies the cardia... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2922003 Sat, 24 Oct 2009 13:28:43 +0100 2922003 http://www.medworm.com/index.php?rid=2922002&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006191%2Fabstract%3Frss%3Dyes (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2922002 Sat, 24 Oct 2009 13:28:43 +0100 2922002 http://www.medworm.com/index.php?rid=2922001&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005914%2Fabstract%3Frss%3Dyes (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2922001 Sat, 24 Oct 2009 13:28:43 +0100 2922001 http://www.medworm.com/index.php?rid=2922000&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005793%2Fabstract%3Frss%3Dyes This one day workshop was organized by Helge Amthor and Thomas Voit and brought together 17 researchers from 4 different countries (Germany, France, UK, USA) with complimentary backgrounds and a particular expertise associated with myostatin. The aim of this workshop was to evaluate the prospective therapies based on myostatin blockade and to strengthen the collaboration between these different laboratories. Such a collective effort seemed particularly timely since many laboratories developed an increasing number of different strategies for myostatin blockade as well as an increasing number of different animal models. Some groups are using a recombinant protein to block the circulating myostatin, some viral gene delivery, while others are using non-viral gene delivery based strategies (for... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2922000 Sat, 24 Oct 2009 13:28:43 +0100 2922000 http://www.medworm.com/index.php?rid=2921999&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005781%2Fabstract%3Frss%3Dyes Abstract: Dogs affected with Golden Retriever Muscular Dystrophy (GRMD) exhibit striking clinical similarities with patients suffering from Duchenne muscular dystrophy (DMD), particularly gait impairments. The purpose of this study was to describe the use and reliability of accelerometry in gait assessment of dogs with muscular dystrophy. Eight healthy and 11 GRMD adult dogs underwent three gait assessment sessions, using accelerometry. Three-axial recordings of accelerations were performed, and gait variables calculated. Total power, force and regularity of accelerations, stride length and speed, normalized by height at withers, stride frequency, and cranio-caudal power were significantly decreased, whereas medio-lateral power was significantly increased in GRMD dogs. Moreover, these vari... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2921999 Sat, 24 Oct 2009 13:28:43 +0100 2921999 http://www.medworm.com/index.php?rid=2921998&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS096089660900580X%2Fabstract%3Frss%3Dyes This report extends the phenotype and genotype of TK2 defects. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2921998 Sat, 24 Oct 2009 13:28:43 +0100 2921998 http://www.medworm.com/index.php?rid=2921997&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005926%2Fabstract%3Frss%3Dyes Abstract: Caveolin-3, the myocyte-specific isoform of caveolins, is preferentially expressed in skeletal, cardiac and smooth muscles. Mutations in the CAV3 gene cause clinically heterogeneous neuromuscular disorders, including rippling muscle disease, or cardiopathies. The same mutation may lead to different phenotypes, but cardiac and muscle involvement rarely coexists suggesting that the molecular network acting with caveolin-3 in skeletal muscle and heart may differ. Here we describe an Italian family (a father and his two sons) with clinical and neurophysiological features of rippling muscle disease and heart involvement characterized by atrio-ventricular conduction defects and dilated cardiomyopathy. Muscle biopsy showed loss of caveolin-3 immunosignal. Molecular studies identified th... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2921997 Sat, 24 Oct 2009 13:28:43 +0100 2921997 http://www.medworm.com/index.php?rid=2921996&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005823%2Fabstract%3Frss%3Dyes We report on a new patient with an unusual clinical presentation. As a youth, he participated in different sports without complaining of muscular symptoms, but at 44years of age, after a brief, intense effort, he experienced lightheadedness without fainting. Serum CK was elevated and the ischemic exercise test showed a pathological lactate response. Muscle biopsy showed only mild abnormalities, but biochemical study revealed a defect of PGAM and genetic analysis showed two different mutations in the PGAM-M gene.Our case expands the clinical spectrum of PGAM deficiency and suggests that the frequency of this metabolic myopathy may be underestimated. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2921996 Sat, 24 Oct 2009 13:28:43 +0100 2921996 http://www.medworm.com/index.php?rid=2921995&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005811%2Fabstract%3Frss%3Dyes We describe the onset of seropositive myasthenia within minutes of minor trauma to the chest and neck in a previously asymptomatic 68-year-old man, followed by protracted disease with persistent antibodies. Such rapid evolution of myasthenia following an identifiable stimulus has not been reported previously and suggests a humoral mechanism. We speculate that the remote effects of autoinflammation secondary to tissue microtrauma led to a sudden increase in muscle permeability and greater exposure of receptors to antibody, with resulting acute impairment of neuromuscular transmission. We also suggest that the trauma might have resulted in increased antibody production by remnant thymic tissue, leading to chronic isease. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2921995 Sat, 24 Oct 2009 13:28:43 +0100 2921995 http://www.medworm.com/index.php?rid=2921994&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005835%2Fabstract%3Frss%3Dyes Abstract: Inclusion body myopathy associated with Paget’s disease and frontotemporal dementia (IBMPFD) is caused by mutations in the valosin containing protein (VCP) gene. The disease is associated with progressive proximal muscle weakness, inclusions and vacuoles in muscle fibers, malfunction in the bone remodeling process resulting in Paget’s disease, and premature frontotemporal dementia. VCP is involved in several cellular processes related to the endoplasmic reticulum associated degradation of proteins. To understand the pathological mechanisms underlying the myopathy in IBMPFD, we have studied the cellular consequences of VCP mutations in human primary myoblasts. Our results revealed that patients’ myoblasts accumulate large vacuoles. Lysosomal membrane proteins Lamp1 and Lamp2... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2921994 Sat, 24 Oct 2009 13:28:42 +0100 2921994 http://www.medworm.com/index.php?rid=2921993&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS096089660900577X%2Fabstract%3Frss%3Dyes Abstract: Susceptibility to sIBM is strongly associated with the HLA-DRB1*03 allele and the 8.1 MHC ancestral haplotype (HLA-A1, B8, DRB1*03) but little is known about the effects of allelic interactions at the DRB1 locus or disease-modifying effects of HLA alleles. HLA-A, B and DRB1 genotyping was performed in 80 Australian sIBM cases and the frequencies of different alleles and allele combinations were compared with those in a group of 190 healthy controls. Genotype–phenotype correlations were also investigated. Amongst carriers of the HLA-DRB1*03 allele, DRB1*03/*01 heterozygotes were over-represented in the sIBM group (p (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2921993 Sat, 24 Oct 2009 13:28:42 +0100 2921993 http://www.medworm.com/index.php?rid=2921992&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005756%2Fabstract%3Frss%3Dyes Abstract: Types 1 and 2 myotonic dystrophy are neuromuscular disorders caused by genomic expansions of simple sequence repeats. These mutations are unstable in somatic cells, which leads to an age-dependent increase of expansion length. Studies to determine whether changes in repeat size may influence disease severity are limited by the small amount of DNA that can be recovered from tissue biopsies samples. Here we used locked nucleic acid oligonucleotide probes and rolling circle amplification to determine length of the expanded repeat in sub-microgram quantities of genomic DNA. These methods can facilitate genetic analysis in cells and tissues obtained from individuals with myotonic dystrophy. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2921992 Sat, 24 Oct 2009 13:28:42 +0100 2921992 http://www.medworm.com/index.php?rid=2921991&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005732%2Fabstract%3Frss%3Dyes In conclusion, lower urinary tract symptoms in DMD patients are under reported and under diagnosed. However, the vast majority of male DMD patients with symptoms experience them as a problem, often reducing quality of life. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2921991 Sat, 24 Oct 2009 13:28:42 +0100 2921991 http://www.medworm.com/index.php?rid=2921990&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005896%2Fabstract%3Frss%3Dyes We describe three patients with a mutation creating a premature termination codon (p.E55X, p.E1110X, and p.S3497PfsX2) but with a mild phenotype, which present three different ways of rescuing the DMD phenotype. In one patient we detected the insertion of a repetitive sequence AluYa5 in intron 56, which led to skipping of exon 57. Further, using quantitative analysis of DMD mRNA carrying various mutated alleles, we examine levels of mRNA degradation due to nonsense mediated mRNA decay. The quantity of dystrophin mRNA is different depending on the presence of a mutation leading to a premature termination codon, and position of the analysed mRNA region with respect to its 5′ end or 3′ end. Average relative amounts of DMD mRNAs carrying a premature termination codon is 48% and 17%, when u... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2921990 Sat, 24 Oct 2009 13:28:42 +0100 2921990 http://www.medworm.com/index.php?rid=2921989&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005884%2Fabstract%3Frss%3Dyes Abstract: A recurrent exon 1 nonsense mutation in the DMD gene, p.Trp3X (c.9G>A), was first ascertained in a proband with no symptoms until age 20 and who walked until the age of 62. Six other unrelated kindreds carrying a p.Trp3X mutation were subsequently ascertained, five from North America and one from Italy. In six of the seven kindreds, the proband presented in childhood incidental to elevated creatine kinase levels detected in the context of other illnesses, or in the setting of cramps with or without rhabdomyolysis. Genetic analysis by high density SNP genotyping demonstrates that the six North American families share a 3.7Mbp haplotype surrounding the p.Trp3X allele, signifying that this is a founder mutation in these individuals. The size of the founder haplotype and the structur... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2921989 Sat, 24 Oct 2009 13:28:41 +0100 2921989 http://www.medworm.com/index.php?rid=2921988&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006403%2Fabstract%3Frss%3Dyes (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2921988 Sat, 24 Oct 2009 13:28:41 +0100 2921988 http://www.medworm.com/index.php?rid=2830255&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006129%2Fabstract%3Frss%3Dyes (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2830255 Fri, 25 Sep 2009 16:49:57 +0100 2830255 http://www.medworm.com/index.php?rid=2830254&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006117%2Fabstract%3Frss%3Dyes (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2830254 Fri, 25 Sep 2009 16:49:57 +0100 2830254 http://www.medworm.com/index.php?rid=2830253&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006105%2Fabstract%3Frss%3Dyes (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2830253 Fri, 25 Sep 2009 16:49:57 +0100 2830253 http://www.medworm.com/index.php?rid=2830252&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005677%2Fabstract%3Frss%3Dyes We very much appreciate the comments of Kuwabara et al. to our report . Extravascular volume overload is one of the minor features of POEMS syndrome . Another report of relapse after successful treatment with auto-PBSCT showed large effusions in the pericardium, pleura, and peritoneum at relapse . Our case showed marked peripheral edema, pleural effusion, and ascites. No other condition that could have caused severe fluid retention was seen on CT of the chest and abdomen or echocardiography. Dietary intake was almost normal before relapse, and albumin/globulin ratio did not change, suggesting that the hypoalbuminemia resulted from fluid retention. Moreover, the efficacy of treatment with dexamethasone, furosemide, and adriamycin suggested that the severe fluid retention was caused by the ... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2830252 Fri, 25 Sep 2009 16:49:57 +0100 2830252 http://www.medworm.com/index.php?rid=2830251&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005501%2Fabstract%3Frss%3Dyes We read the article by Imai et al. with great interest. The authors described a patient with polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes (POEMS) syndrome, who was successfully treated with high-dose chemotherapy with autologous peripheral blood stem cell transplantation (Auto-PBSCT). Three years later, the patient developed peripheral edema, pleural effusion, and ascites. Although serum level of vascular endothelial growth factor (VEGF) did not elevate, this condition was regarded as relapse of POEMS syndrome, and the patient was treated with dexamethasone and furosemide, followed by chemotherapy and thalidomide treatment. We think that it is unclear whether edema/effusion developed 3years after Auto-PBSCT was virtually caused by a relapse of POEMS syndrome, o... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2830251 Fri, 25 Sep 2009 16:49:56 +0100 2830251 http://www.medworm.com/index.php?rid=2830250&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005495%2Fabstract%3Frss%3Dyes (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2830250 Fri, 25 Sep 2009 16:49:56 +0100 2830250 http://www.medworm.com/index.php?rid=2830249&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005744%2Fabstract%3Frss%3Dyes Fifteen participants representing clinicians and parents from Canada, the Netherlands, the UK, and the USA met in Miami on April 24–25, 2008 to attend a workshop that focused on facilitating family adjustment to a diagnosis of Duchenne muscular dystrophy (DMD). The workshop, sponsored by Parent Project Muscular Dystrophy (PPMD), was organized in response to parent and clinician concerns that many families do not receive adequate psychosocial support following diagnosis. DMD is a complex multi-systemic medical condition with characteristics of both chronic and terminal disease . This can present significant challenges to a family’s ability to adjust to a diagnosis of DMD, and a greater understanding of strategies that can be implemented to maximize positive outcome is necessary. Althoug... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2830249 Fri, 25 Sep 2009 16:49:56 +0100 2830249 http://www.medworm.com/index.php?rid=2830248&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005641%2Fabstract%3Frss%3Dyes A meeting to discuss the use of stimulation single fibre electromyography (StimSFEMG) to assist diagnosis of congenital myasthenic syndromes (CMS) took place on 24th April 2009 at the Institute of Child Health in London. Seventeen neurophysiologists with a special interest in electromyography from 15 regional centres attended. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2830248 Fri, 25 Sep 2009 16:49:56 +0100 2830248 http://www.medworm.com/index.php?rid=2830247&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005483%2Fabstract%3Frss%3Dyes 17 clinicians and basic scientists from 11 centres in France, the UK and the USA convened from the 16th to the 18th of January 2008 in Naarden, The Netherlands, for the 164th ENMC sponsored Workshop on centronuclear/myotubular myopathies (CNM/MTM); in addition, the workshop was also attended by Anne Lennox and Melanie Spring as representative of the Myotubular Trust, a European patient support group for patients affected by myotubular (centronuclear) myopathies. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2830247 Fri, 25 Sep 2009 16:49:56 +0100 2830247 http://www.medworm.com/index.php?rid=2830246&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005185%2Fabstract%3Frss%3Dyes We report a case of rhabdomyolysis with severe generalized weakness and muscle pain after administration of ritodrine hydrochloride, in a pregnant patient without history of neuromuscular disease.Laboratory tests showed an increase of blood CK value and myoglobinuria. An electromyography was performed, revealing a typical myogenic pattern and diffuse denervation activity.Muscular biopsy allowed to rule out inflammatory and metabolic myopathy.After delivery, the patient underwent intensive rehabilitation with progressive improvement of her clinical situation, until complete recovery. Three months later, both neurological assessment and CK levels were normal.This case highlights that rhabdomyolysis has to be considered even in patient treated with ritodrine alone and without history of neuro... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2830246 Fri, 25 Sep 2009 16:49:56 +0100 2830246 http://www.medworm.com/index.php?rid=2830245&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS096089660900563X%2Fabstract%3Frss%3Dyes We report on a young woman with an enlargement of the right upper extremity. Electromyography showed polyphasic, large motor unit potentials in the affected muscles. MRI and ultrasound assessment demonstrated diffuse enlargement of muscle mass without signs of edema. Muscle biopsy revealed sections with marked variations in fiber size with no signs of inflammation or marked loss of muscle fibers. Factors assumed to be important in the pathophysiology of this phenomenon are discussed. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2830245 Fri, 25 Sep 2009 16:49:56 +0100 2830245 http://www.medworm.com/index.php?rid=2830244&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609001540%2Fabstract%3Frss%3Dyes We report a 52year-old woman with a past history of lepromatous leprosy (14years prior to our first evaluation) who presented with progressive weakness and severe arm/leg pain. CSF analysis revealed elevated protein level with normal cell count. Skin and sural nerve biopsy showed no bacilli. Immunomodulatory treatment led to major improvement on clinical, CSF and electrodiagnostic grounds, but after one year of treatment, skin test revealed leprosy relapse. To our knowledge, this is the first report of a multifocal inflammatory neuropathy heralding leprosy relapse. Extended neurological work-up may be important in unexplained neuropathy progression after leprosy treatment. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2830244 Fri, 25 Sep 2009 16:49:56 +0100 2830244 http://www.medworm.com/index.php?rid=2830243&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005240%2Fabstract%3Frss%3Dyes We report a female patient with posterior reversible encephalopathy syndrome as the initial manifestation of a Guillain–Barré syndrome. She presented with headache and paraesthesias of the fingertips three days after gastroenteritis. Examination revealed hypertension and tachypnoea. Brain MRI showed a bi-occipital vasogenic edema consistent with the syndrome. Subsequent examination showed a tetraparesis. Cerebrospinal fluid analyses revealed albuminocytologic dissociation and the diagnosis of Guillain–Barré syndrome was made. The typical radiological and clinical features of posterior reversible encephalopathy syndrome (headache and hypertension) were present prior to the clinical manifestation of Guillain–Barré syndrome. We suggest posterior reversible encephalopathy syndrome to ... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2830243 Fri, 25 Sep 2009 16:49:55 +0100 2830243 http://www.medworm.com/index.php?rid=2830242&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005471%2Fabstract%3Frss%3Dyes Abstract: Dysphagia in X-linked bulbospinal muscular atrophy (Kennedy disease) has never been characterized in detail by objective swallowing studies. We assessed the nature of swallowing impairment in Kennedy disease by undertaking fiberoptic endoscopic evaluation of swallowing examinations of 10 genetically confirmed patients with Kennedy disease who were scored according to an ordinal rating scale including 25 different items. The results were compared to an age-matched control group of 10 healthy volunteers. Swallowing dysfunction was found in 80% of patients with Kennedy disease. The main pattern of dysphagia was an incomplete food bolus clearance through the pharynx with residues left in the valleculae overflowing into the laryngeal vestibule after the swallow. Total duration of the ... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2830242 Fri, 25 Sep 2009 16:49:55 +0100 2830242 http://www.medworm.com/index.php?rid=2830241&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609001345%2Fabstract%3Frss%3Dyes In this report, a novel missense mutation is presented in the LITAF gene (c.430G>A p.V144M) in a German CMT family exhibiting typical electrophysiological features of a demyelinating neuropathy with conduction blocks and variable age at onset. Molecular genetic characterization of demyelinating HMSN should therefore include screening of the LITAF gene if typical signs of a non-homogenous demyelinating neuropathy combined with dominant familial occurrence are evident. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2830241 Fri, 25 Sep 2009 16:49:55 +0100 2830241 http://www.medworm.com/index.php?rid=2830240&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005707%2Fabstract%3Frss%3Dyes Abstract: All patients with sporadic amyotrophic lateral sclerosis (SALS) have TDP-43 inclusions in their motor neurons, suggesting this protein plays a major role in the disease. Coding mutations in the gene for TDP-43, TARDBP, have been found in only a few patients with SALS. However, the non-coding regulatory regions of TARDBP have not yet been examined in SALS. We therefore sequenced both coding and non-coding regions of TARDBP in 46 tissue-banked SALS brains (brain DNA was used to detect somatic mutations). Non-coding variants (in the promoter or intron 1) were detected in 16 patients (35%) and coding variants in 4 (9%). Two known promoter variants were found more frequently in SALS patients than in controls. Two other variants, found in one patient each but not in controls, have pote... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2830240 Fri, 25 Sep 2009 16:49:55 +0100 2830240 http://www.medworm.com/index.php?rid=2830239&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005690%2Fabstract%3Frss%3Dyes We report a MEB case whose presenting sign was congenital blindness. She was investigated primarily for eye abnormalities at onset. She had bilateral retinal detachment and microphthalmia. Mild axial hypotonia and motor retardation were attributed to cerebral disorder in another center. Muscle biopsy showed mild myopathic changes and significant α-dystroglycan deficiency. Analysis of the POMGnT1 showed a novel homozygous mutation 1814G>C, causing p.Arg605Pro change. This case expands the clinical spectrum of MEB with unusually severe eye abnormalities compared to mild skeletal muscle and brain involvement. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2830239 Fri, 25 Sep 2009 16:49:55 +0100 2830239 http://www.medworm.com/index.php?rid=2830238&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS096089660900546X%2Fabstract%3Frss%3Dyes We report muscle MRI findings in two patients affected by reducing body myopathy and in their carrier mothers. All four showed a distinctive pattern of muscle alteration, with a predominant involvement of postero-medial muscle at thigh level and of soleus at calf level, with a striking sparing of glutei muscles that also appeared to be hypertrophic. These findings may help in the differential diagnosis of these disorders. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2830238 Fri, 25 Sep 2009 16:49:54 +0100 2830238 http://www.medworm.com/index.php?rid=2830237&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005197%2Fabstract%3Frss%3Dyes We report a case of cap disease concerning a 42-year-old man, without any family history and presenting a p.Arg168His mutation on the TPM3 gene. His first biopsy at 7years had only shown selective type I hypotrophy. Mutations of TPM3 gene have been found in nemaline myopathy, congenital fiber type disproportion, but never before in cap disease. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2830237 Fri, 25 Sep 2009 16:49:54 +0100 2830237 http://www.medworm.com/index.php?rid=2830236&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005689%2Fabstract%3Frss%3Dyes Abstract: Neonatal hypotonia is frequently observed with a highly variable clinical presentation. Congenital myopathies that are classically characterized by the presence of structural changes of the muscle fibres such as cores, rods and aggregates have been reported to be occasionally associated with this presentation. However, the identification of the causing defect can be a challenging task in severe neonatal forms of the disease since specific structural changes might not always be present in affected newborn’s muscles. The RYR1 gene encodes the skeletal muscle isoform of a calcium channel, the ryanodine receptor, and has been involved in both dominant and recessive congenital myopathies associated with structural changes and presenting with various degree of severity. Here we repor... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2830236 Fri, 25 Sep 2009 16:49:54 +0100 2830236 http://www.medworm.com/index.php?rid=2830235&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005719%2Fabstract%3Frss%3Dyes Abstract: Only sparse information is available concerning the relationship between pregnancy and hereditary neuromuscular disorders. This review deals with several issues like the effects of such conditions on female fertility (myotonic dystrophy type 1 and mitochondrial disorders), on the risk to the fetus (myotonic dystrophy type 1 and Charcot-Marie-Tooth disease), on the ability to carry pregnancy and its complications (markedly increased preterm labor in myotonic dystrophies and spinal muscular atrophy), on the labor and its possible need for interventions (myotonic dystrophy type 1, facioscapulohumeral dystrophy and Charcot-Marie-Tooth disease). It also discusses the question of pregnancy effects on the course of the inherited neuromuscular disorders (myotonic dystrophies, spinal musc... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2830235 Fri, 25 Sep 2009 16:49:54 +0100 2830235 http://www.medworm.com/index.php?rid=2830234&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609006075%2Fabstract%3Frss%3Dyes (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2830234 Fri, 25 Sep 2009 16:49:54 +0100 2830234 http://www.medworm.com/index.php?rid=2676910&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005604%2Fabstract%3Frss%3Dyes (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2676910 Fri, 07 Aug 2009 11:14:32 +0100 2676910 http://www.medworm.com/index.php?rid=2676909&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005598%2Fabstract%3Frss%3Dyes (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2676909 Fri, 07 Aug 2009 11:14:32 +0100 2676909 http://www.medworm.com/index.php?rid=2676908&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005653%2Fabstract%3Frss%3Dyes (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2676908 Fri, 07 Aug 2009 11:14:32 +0100 2676908 http://www.medworm.com/index.php?rid=2676907&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005161%2Fabstract%3Frss%3Dyes (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2676907 Fri, 07 Aug 2009 11:14:32 +0100 2676907 http://www.medworm.com/index.php?rid=2676906&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005173%2Fabstract%3Frss%3Dyes Duchenne muscular dystrophy (DMD) leads to progressive muscle weakness and wasting from early childhood on. Due to frame-disrupting mutations in the DMD gene patients have a complete loss of functional dystrophin, an essential protein in the muscle fiber membranes. By inducing specific exon skipping during pre-mRNA splicing, antisense oligonucleotide compounds (AONs) allow restoration of the transcript’s open reading frame and novel expression of an internally deleted, partially functional dystrophin protein as found in the typically less severe Becker muscular dystrophy patients. We previously completed a successful proof-of-concept clinical study, demonstrating safety, tolerability, and dystrophin restoring effect of a single, intramuscular dose of antisense oligonucleotide PRO051. We ... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2676906 Fri, 07 Aug 2009 11:14:32 +0100 2676906 http://www.medworm.com/index.php?rid=2676905&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS096089660900515X%2Fabstract%3Frss%3Dyes Conclusion: Our results show that, following intramuscular injection, AVI-4658 is safe and induced skipping of exon 51, leading to dystrophin protein production in vivo. AO-induced exon skipping offers one of the most promising therapeutic strategies for DMD and this study forms the basis for future systemic studies. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2676905 Fri, 07 Aug 2009 11:14:32 +0100 2676905 http://www.medworm.com/index.php?rid=2676904&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005148%2Fabstract%3Frss%3Dyes Deficiency of the dysferlin protein presents as two major clinical phenotypes: Limb Girdle Muscular Dystrophy type2B (LGMD2B) and Miyoshi Myopathy (MM). Dysferlin is known to participate in membrane repair, providing a potential hypothesis to the underlying pathophysiology of these diseases. The size of the dysferlin cDNA prevents its direct incorporation into an Adeno-Associated-Virus (AAV) vector for therapeutic gene transfer into muscle. To bypass this limitation, we split the dysferlin cDNA at the exon 28/29 junction and cloned it into two independent AAV vectors carrying the appropriate splicing sequences. Transfer of the corresponding vectors into a dysferlin-deficient mouse model led to the expression of full-length dysferlin for at least one year. This expression was associated wit... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2676904 Fri, 07 Aug 2009 11:14:32 +0100 2676904 http://www.medworm.com/index.php?rid=2676903&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005136%2Fabstract%3Frss%3Dyes In this study, we analyzed the use of sialic acid metabolites in DMRV/hIBM model mice from 10–20weeks continuously until 54–57weeks of age. Parameters evaluated include overall motor performance, skeletal muscle contractile properties, detailed analysis of muscle pathology, and level of sialic acid in serum, muscle, and other organs. By showing that the DMRV/hIBM mice do not develop muscle atrophy, weakness and degeneration after giving three kinds of sialic acid metabolites per orem, we provide evidence that hyposialylation indeed is one of the key factors that play a role in the pathomechanism of DMRV/hIBM. Further, these results support the notion that DMRV/hIBM can potentially be treatable by employing a simple strategy that could be applicable in future clinical trial. (Source: Ne... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2676903 Fri, 07 Aug 2009 11:14:32 +0100 2676903 http://www.medworm.com/index.php?rid=2676902&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005124%2Fabstract%3Frss%3Dyes Muscle satellite cells play central roles in postnatal muscle growth and regeneration, and therefore, are the most promising tool for cell therapy for Duchenne muscular dystrophy (DMD). Indeed, cultured satellite cells/myoblasts have been used for transplantation into DMD patients in early 90’s, but attempts continue in combination with adequate immunosupressants. Freshly isolated satellite cells participate in muscle repair more effectively than cultured satellite cells, at least in mice models, but application into human patients has not started yet. In addition to satellite cells, skeletal muscle contains other types of stem cells. Among them, muscle side population (SP) cells are heterogeneous in origin, gene expression and differentiation potential. CD31-negative CD45-negative SP ce... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2676902 Fri, 07 Aug 2009 11:14:32 +0100 2676902 http://www.medworm.com/index.php?rid=2676901&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005112%2Fabstract%3Frss%3Dyes Inflammation is a prominent feature of the pathology of several muscular dystrophies that include Duchenne muscular dystrophy, congenital muscular dystrophy and limb girdle muscular dystrophy type 2B. Although inflammation of dystrophic muscle was traditionally viewed as an epiphenomenon that was inconsequential in determining the course of these pathologies, recent studies have revealed complex and functionally important interactions between inflammatory cells and dystrophic muscle that can influence muscle injury, repair and regeneration. These new findings illuminate several potential therapeutic strategies for the treatment of muscular dystrophies. One strategy centers on in vivo manipulation of the production of naturally occurring immunoregulatory molecules, such as nitric oxide. Ano... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2676901 Fri, 07 Aug 2009 11:14:32 +0100 2676901 http://www.medworm.com/index.php?rid=2676900&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005100%2Fabstract%3Frss%3Dyes The scenery for experimental therapies in Duchenne muscular dystrophy (DMD) is rapidly changing. Early proof of concept studies based on drugs which force the translation machinery to ignore premature termination codons such as PTC124, or antisense oligomers to induce exon skipping and restoration of the reading frame in DMD boys with out-of-frame deletions, such as PRO051 or AVI-4658, have been successfully completed. These interventions were successful in restoring dystrophin expression to a variable degree. Studies focused on demonstrating longer term safety and improved function of boys treated with these compounds are currently planned or underway. While it is not likely that any of these approaches will represent “the cure” for DMD, it is realistic to expect these interventions t... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2676900 Fri, 07 Aug 2009 11:14:32 +0100 2676900 http://www.medworm.com/index.php?rid=2676899&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005094%2Fabstract%3Frss%3Dyes Spinal muscular atrophy SMA is caused by loss or mutation of SMN1 and retention of SMN2 which leads to a reduction in SMN levels. We and others have developed mice that mimic this situation. High copy number of SMN2 can prevent SMA in man and mouse. The majority of treatment strategies for SMA have concentrated on stimulating SMN2 to produce more SMN. One outstanding question is where and when SMN needs to be induced to rescue SMA. To address the temporal requirement of SMN we have developed mice in which high levels of SMN can be induced. Induction of SMN in these mice indicates that postnatal induction of SMN does correct SMA. To address spatial expression we and others have expressed SMN in different tissues indicating that expression in neurons is critical for correction. Three main ap... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2676899 Fri, 07 Aug 2009 11:14:32 +0100 2676899 http://www.medworm.com/index.php?rid=2676898&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005082%2Fabstract%3Frss%3Dyes Conclusion: For muscular dystrophy patients with physical limitation, equal opportunities and environment for exercising their ability should be secured by the specific policies and regulations, which consider their physical disabilities and interconnect educational field with vocational field. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2676898 Fri, 07 Aug 2009 11:14:32 +0100 2676898 http://www.medworm.com/index.php?rid=2676897&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005070%2Fabstract%3Frss%3Dyes Epo and VEGF are known to be the growth factors involved in the regulation of cellular activity when oxygen transport is reduced as in anemia or hypoxic conditions. In skeletal muscles VEGF has been demonstrated to be required for myogenesis and angiogenesis while Epo was suggested to be involved in muscle development and repair. Our aim was to assess the effect of anemia and hypoxia (∼4200m) on the expression of VEGF isoforms 120, 164 and 188 and on the structure of capillary network in gastrocnemius muscle of Epo-deficient transgenic mice (Epo-TAgh). We demonstrated that one of the mechanisms to counteract the anemia is the improvement of microvessel network. Interestingly, in normoxia the VEGF protein is not overexpressed in Epo-TAgh muscles but the distribution of the various isoform... Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2676897 Fri, 07 Aug 2009 11:14:32 +0100 2676897 http://www.medworm.com/index.php?rid=2676896&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005069%2Fabstract%3Frss%3Dyes A 53-year-old woman without cardiac risk factors first noticed trouble carrying laundry up stairs 18months prior to presentation. She deteriorated over 3months, losing ambulation just prior to presentation. She was diagnosed with congestive heart failure (CHF) with an ejection fraction of 40%, but angiographically “pristine” coronary arteries, and was placed on the heart transplant candidate list. Twelve years prior, she was diagnosed with lupus based on myalgias and a positive ANA; her new rheumatologist questioned this diagnosis, and discontinued hydroxychloroquine (400mg/d for 7years). (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2676896 Fri, 07 Aug 2009 11:14:32 +0100 2676896 http://www.medworm.com/index.php?rid=2676895&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005057%2Fabstract%3Frss%3Dyes Discussion: RMS is likely related to both chronic leukaemia and anti-MAG neuropathy due to some autoimmune mechanisms. It may have been increased by statin exposure. The different electrophysiological pattern associated with the location in chronically denervated muscles suggest a continuum of neuromuscular hyperexcitabilility in acquired RMS. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2676895 Fri, 07 Aug 2009 11:14:31 +0100 2676895 http://www.medworm.com/index.php?rid=2676894&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005045%2Fabstract%3Frss%3Dyes Conclusions: Localized muscle hypertrophy is known in muscular dystrophies and unilateral muscle hypertrophy have been reported in spinal muscular atrophy, post-radiation neuropathies, in spinal stenosis, in intraspinal neurinoma, in sciatic nerve lesion, myositis ossificans progressiva and fascial compartment syndrome. The presented case shows that in case of localized muscle hypertrophy even without any muscular weakness further examination should be performed to integrate the localized muscle hypertrophy into the diagnosis of a generalized muscle disease. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2676894 Fri, 07 Aug 2009 11:14:31 +0100 2676894 http://www.medworm.com/index.php?rid=2676893&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005033%2Fabstract%3Frss%3Dyes Background: The reference intervals for CK developed by Scandinavian Society of Clinical Chemistry are based on 3035 Scandinavians aged>18 years. Using nonparametric statistics, abnormal limits are defined outside the 2.5 and 97.5% percentiles. Upper limits are 210 UL in women, 400 UL in men (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2676893 Fri, 07 Aug 2009 11:14:31 +0100 2676893 http://www.medworm.com/index.php?rid=2676892&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS0960896609005021%2Fabstract%3Frss%3Dyes Conclusions: (1) Mitochondrial pathology is a commonly encountered histological finding, Functional studies preferably on fresh muscle sample followed by appropriate targeted genetic testing should be done to reach a specific mitochondrial diagnosis. (2) Floppiness is the commonest clinical presentation of neurological disorders in neonates regardless of the anatomic localization of the pathology. (3) Muscle pathology should be used as an additional helpful tool provided meticulous clinical and supportive laboratory investigations have been performed. This tool, however, in the absence of other clues is costly and may be of limited help in a significant proportion of patients. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2676892 Fri, 07 Aug 2009 11:14:31 +0100 2676892 http://www.medworm.com/index.php?rid=2676891&cid=s_38558_25_f&fid=38558&url=http%3A%2F%2Fwww.nmd-journal.com%2Farticle%2FPIIS096089660900501X%2Fabstract%3Frss%3Dyes Incidentally detected high serum creatine kinase (CK) in asymptomatic children is not rare in pediatric neurology clinics. We have analyzed the muscle histopathology of asymptomatic children with normal neurological examination who presented with incidentally detected and persistent high CK, to see the diagnostic contribution of muscle pathology in such cases. (Source: Neuromuscular Disorders) Neuromuscular Disorders journals http://www.medworm.com/rss/comments.php?id=2676891 Fri, 07 Aug 2009 11:14:31 +0100 2676891