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WMS NewsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - November 20, 2009 Category: Neurology Source Type: journals

WMS online application formEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - November 20, 2009 Category: Neurology Source Type: journals

Wms 2010Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - November 20, 2009 Category: Neurology Source Type: journals

3rd Annual Dysferlin Conference 2–5 June 2009, Boston, Massachusetts, USAEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 ...
Source: Neuromuscular Disorders - November 20, 2009 Category: Neurology Authors: Douglas E. Albrecht, Nupur Garg, Laura E. Rufibach, Bradley A. Williams, Nilah Monnier, Esther Hwang, Plavi Mittal Tags: Meeting report Source Type: journals

Patient Registries and Trial Readiness in Myotonic Dystrophy – TREAT-NMD/Marigold International Workshop ReportEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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-...
Source: Neuromuscular Disorders - November 20, 2009 Category: Neurology Authors: Rachel Thompson, Benedikt Schoser, Darren G. Monckton, Karla Blonsky, Hanns Lochmüller Tags: Workshop report Source Type: journals

Myopathy secondary to intravascular large B-cell lymphomaEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 mu...
Source: Neuromuscular Disorders - November 20, 2009 Category: Neurology Authors: C. Marini-Bettolo, R. Lane, P. Charles, K. Naresh, R. Nicholas, P. Singh, A. Cohen, P. Mackie, F. Roncaroli Tags: Research papers Source Type: journals

Isolated inflammatory myopathy with rimmed vacuoles presenting with dropped headEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Neuromuscular Disorders - November 20, 2009 Category: Neurology Authors: Hiroshi Kataoka, Kazuma Sugie, Mari Terashima, Munehisa Koizumi, Hirosei Horikawa, Ichizo Nishino, Ikuya Nonaka, Satoshi Ueno Tags: Research papers Source Type: journals

Myelin protein zero Val102fs mutation manifesting with isolated spinal root hypertrophyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This report adds new data concerning the clinical presentations of MPZ mutations. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - November 20, 2009 Category: Neurology Authors: Corrado Marchini, Sandro Zambito Marsala, Matteo Bendini, Federica Taioli, Giuseppe Damante, Incoronata Renata Lonigro, Gian Maria Fabrizi Tags: Research papers Source Type: journals

Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failureEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 obse...
Source: Neuromuscular Disorders - November 20, 2009 Category: Neurology Authors: S. Bohlega, G. Van Goethem, A. Al Semari, A. Löfgren, M. Al Hamed, C. Van Broeckhoven, M. Kambouris Tags: Research papers Source Type: journals

Neuromuscular disease presentation with three genetic defects involving two genomesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Neuromuscular Disorders - November 20, 2009 Category: Neurology Authors: Mazhor Al-Dosary, Roger G. Whittaker, Joanna Haughton, Robert McFarland, Judith Goodship, Douglass M. Turnbull, Robert W. Taylor Tags: Research papers Source Type: journals

Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activityEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Neuromuscular Disorders - November 20, 2009 Category: Neurology Authors: Roberto Massa, Alessandra Tessa, Maria Margollicci, Vanna Micheli, Andrea Romigi, Giulia Tozzi, Chiara Terracciano, Fiorella Piemonte, Giorgio Bernardi, Filippo M. Santorelli Tags: Research papers Source Type: journals

Antisense oligonucleotide therapeutics for iron–sulphur cluster deficiency myopathyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 ex...
Source: Neuromuscular Disorders - November 20, 2009 Category: Neurology Authors: Gittan Kollberg, Elisabeth Holme Tags: Research papers Source Type: journals

Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutationsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 a...
Source: Neuromuscular Disorders - November 20, 2009 Category: Neurology Authors: U. Schara, N. Barisic, M. Deschauer, C. Lindberg, V. Straub, N. Strigl-Pill, M. Wendt, A. Abicht, J.S. Müller, H. Lochmüller Tags: Research papers Source Type: journals

The difficulty in confirming clinical diagnosis of myasthenia gravis in a seronegative patient: A possible neurophysiological approachEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 stimulatio...
Source: Neuromuscular Disorders - November 20, 2009 Category: Neurology Authors: P. Caliandro, A. Evoli, E. Stålberg, G. Granata, P. Tonali, L. Padua Tags: Research papers Source Type: journals

Oestrogen receptor alpha gene intronic polymorphisms and autoimmune myasthenia gravis in Caucasian womenEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 grou...
Source: Neuromuscular Disorders - November 20, 2009 Category: Neurology Authors: Zsuzsanna Pal, Anikó Gal, Viktória Remenyi, Attila Tordai, Maria Judit Molnar Tags: Research papers Source Type: journals

Feasibility of foot and ankle strength training in childhood Charcot-Marie-Tooth diseaseEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 en...
Source: Neuromuscular Disorders - November 20, 2009 Category: Neurology Authors: Joshua Burns, Jacqueline Raymond, Robert Ouvrier Tags: Research papers Source Type: journals

Autosomal recessive inheritance of classic Bethlem myopathyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 Ull...
Source: Neuromuscular Disorders - November 20, 2009 Category: Neurology Authors: A. Reghan Foley, Ying Hu, Yaqun Zou, Alexandra Columbus, John Shoffner, Diane M. Dunn, Robert B. Weiss, Carsten G. Bönnemann Tags: Research papers Source Type: journals

The PedsQL™ in pediatric patients with Spinal Muscular Atrophy: Feasibility, reliability, and validity of the Pediatric Quality of Life Inventory™ Generic Core Scales and Neuromuscular ModuleEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 measu...
Source: Neuromuscular Disorders - November 20, 2009 Category: Neurology Authors: Susan T. Iannaccone, Linda S. Hynan, Anne Morton, Renee Buchanan, Christine A. Limbers, James W. Varni, the AmSMART Group Tags: Research papers Source Type: journals

Editorial BoardEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - November 20, 2009 Category: Neurology Source Type: journals

WMS NewsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 24, 2009 Category: Neurology Tags: WMS section Source Type: journals

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(Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 24, 2009 Category: Neurology Tags: WMS section Source Type: journals

Wms 2010Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 24, 2009 Category: Neurology Tags: WMS section Source Type: journals

Report on the 7th Annual Scientific Meeting of the Asian and Oceanian Myology Centre, Melbourne, November 2008Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 24, 2009 Category: Neurology Tags: Muscle news Source Type: journals

Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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-rehabilitat...
Source: Neuromuscular Disorders - October 24, 2009 Category: Neurology Authors: Uditha Jayatunga Tags: Book review Source Type: journals

Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 t...
Source: Neuromuscular Disorders - October 24, 2009 Category: Neurology Authors: Murielle Dunand, Johannes A. Lobrinus, Pierre-Yves Jeannet, Anthony Behin, Kristl G. Claeys, Duygu Selcen, Thierry Kuntzer Tags: Letter to the Editor Source Type: journals

Three distinguishable phenotypes in golden retriever muscular dystrophyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 24, 2009 Category: Neurology Tags: What the journals say Source Type: journals

Drug screening for muscular dystrophy: From target to function toward patients, is anything lost?Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 24, 2009 Category: Neurology Tags: What the journals say Source Type: journals

Current advances in the development of therapies for neuromuscular disorders based on myostatin signalling, 3rd International Institute of Myology Workshop, Paris, September 12th, 2008Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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...
Source: Neuromuscular Disorders - October 24, 2009 Category: Neurology Authors: Julie Dumonceaux, Helge Amthor Tags: Workshop report Source Type: journals

Gait analysis using accelerometry in dystrophin-deficient dogsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 w...
Source: Neuromuscular Disorders - October 24, 2009 Category: Neurology Authors: Inès Barthélémy, Eric Barrey, Jean-Laurent Thibaud, Ane Uriarte, Thomas Voit, Stéphane Blot, Jean-Yves Hogrel Tags: Research papers Source Type: journals

Progressive myofiber loss with extensive fibro-fatty replacement in a child with mitochondrial DNA depletion syndrome and novel thymidine kinase 2 gene mutationsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This report extends the phenotype and genotype of TK2 defects. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 24, 2009 Category: Neurology Authors: James Collins, Kevin E. Bove, David Dimmock, Paula Morehart, Lee-Jun Wong, Brenda Wong Tags: Research papers Source Type: journals

Rippling muscle disease and cardiomyopathy associated with a mutation in the CAV3 geneEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 involveme...
Source: Neuromuscular Disorders - October 24, 2009 Category: Neurology Authors: Michela Catteruccia, Tommaso Sanna, Filippo Maria Santorelli, Alessandra Tessa, Raffaella Di Giacopo, Donato Sauchelli, Alessandro Verbo, Mauro Lo Monaco, Serenella Servidei Tags: Research papers Source Type: journals

Unusual presentation of phosphoglycerate mutase deficiency due to two different mutations in PGAM-M geneEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 myopa...
Source: Neuromuscular Disorders - October 24, 2009 Category: Neurology Authors: Paola Tonin, Claudio Bruno, Denise Cassandrini, Chiara Savio, Eleonora Tavazzi, Giuliano Tomelleri, Giovanni Piccolo Tags: Research papers Source Type: journals

Myasthenia gravis precipitated by trauma: Latent myasthenia and the concept of ‘threshold’Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 h...
Source: Neuromuscular Disorders - October 24, 2009 Category: Neurology Authors: Russell Lane, John Wade, Dennis McGonagle Tags: Research papers Source Type: journals

Valosin containing protein associated inclusion body myopathy: abnormal vacuolization, autophagy and cell fusion in myoblastsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 conseq...
Source: Neuromuscular Disorders - October 24, 2009 Category: Neurology Authors: Jouni Vesa, Hailing Su, Giles D. Watts, Sabine Krause, Maggie C. Walter, Barbara Martin, Charles Smith, Douglas C. Wallace, Virginia E. Kimonis Tags: Research papers Source Type: journals

Sporadic inclusion body myositis: HLA-DRB1 allele interactions influence disease risk and clinical phenotypeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 grou...
Source: Neuromuscular Disorders - October 24, 2009 Category: Neurology Authors: Frank L. Mastaglia, Merrilee Needham, Adrian Scott, Ian James, Paul Zilko, Timothy Day, Lynette Kiers, Alastair Corbett, Campbell S. Witt, Richard Allcock, Nigel Laing, Michael Garlepp, Frank T. Christiansen Tags: Research papers Source Type: journals

Scaled-down genetic analysis of myotonic dystrophy type 1 and type 2Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 analys...
Source: Neuromuscular Disorders - October 24, 2009 Category: Neurology Authors: Masayuki Nakamori, Krzysztof Sobczak, Richard T. Moxley, Charles A. Thornton Tags: Research papers Source Type: journals

Prevalence and psychosocial impact of lower urinary tract symptoms in patients with Duchenne muscular dystrophyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Neuromuscular Disorders - October 24, 2009 Category: Neurology Authors: Evaline van Wijk, Bert J. Messelink, Lily Heijnen, Imelda J.M. de Groot Tags: Research papers Source Type: journals

Point mutations in Czech DMD/BMD patients and their phenotypic outcomeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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...
Source: Neuromuscular Disorders - October 24, 2009 Category: Neurology Authors: Jana Sedláčková, Petr Vondráček, Markéta Hermanová, Josef Zámečník, Zuzana Hrubá, Jana Haberlová, Josef Kraus, Tat’ána Maříková, Petra Hedvičáková, Stanislav Voháňka, Lenka Fajkusová Tags: Research papers Source Type: journals

DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 sh...
Source: Neuromuscular Disorders - October 24, 2009 Category: Neurology Authors: Kevin M. Flanigan, Diane M. Dunn, Andrew von Niederhausern, Michael T. Howard, Jerry Mendell, Anne Connolly, Carol Saunders, Ann Modrcin, Majed Dasouki, Giacomo P. Comi, Roberto Del Bo, Angela Pickart, Richard Jacobson, Richard Finkel, Livija Medne, Rober Tags: Research papers Source Type: journals

Editorial BoardEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 24, 2009 Category: Neurology Source Type: journals

WMS NewsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - September 25, 2009 Category: Neurology Source Type: journals

WMS online application formEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - September 25, 2009 Category: Neurology Source Type: journals

Wms 2010Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - September 25, 2009 Category: Neurology Source Type: journals

ResponseEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 resu...
Source: Neuromuscular Disorders - September 25, 2009 Category: Neurology Authors: Noboru Imai Tags: Letters to the Editor Source Type: journals

Relapse of POEMS syndrome without increased level of VEGFEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 chemother...
Source: Neuromuscular Disorders - September 25, 2009 Category: Neurology Authors: Satoshi Kuwabara, Kazuaki Kanai, Sonoko Misawa, Chiaki Nakaseko Tags: Letters to the Editor Source Type: journals

The potential of inducing systemic and therapeutic exon skipping with oligonucleotides evaluated in the Beagle dog with Muscular DystrophyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - September 25, 2009 Category: Neurology Tags: What the journals say Source Type: journals

Facilitating family adjustment to a diagnosis of Duchenne muscular dystrophy: April 24–25, 2008, Miami, FloridaEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 ...
Source: Neuromuscular Disorders - September 25, 2009 Category: Neurology Authors: James Poysky, Kathi Kinnett Tags: Workshop reports Source Type: journals

Workshop on the use of stimulation single fibre electromyography for the diagnosis of myasthenic syndromes in children held in the Institute of Child Health and Great Ormond Street Hospital for Children in London on April 24th, 2009Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Neuromuscular Disorders - September 25, 2009 Category: Neurology Authors: Matthew Pitt Tags: Workshop reports Source Type: journals

164th ENMC International workshop: 6th workshop on centronuclear (myotubular) myopathies, 16–18th January 2009, Naarden, The NetherlandsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Neuromuscular Disorders - September 25, 2009 Category: Neurology Authors: Heinz Jungbluth, Carina Wallgren-Pettersson, Jocelyn F. Laporte, on behalf of the Centronuclear (Myotubular) Myopathy Consortium Tags: Workshop reports Source Type: journals

Rhabdomyolysis caused by tocolytic therapy with ritodrine hydrochlorideEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 as...
Source: Neuromuscular Disorders - September 25, 2009 Category: Neurology Authors: L. Verriello, D. D’Amico, G. Pauletto, G.L. Gigli, P. Bergonzi Tags: Research papers Source Type: journals