Treatment resistance in inclusion body myositis: the role of mast cells
Inclusion body myositis (IBM) has a characteristic clinical presentation consisting of progressive asymmetric finger flexion and knee extension weakness. Currently, it is classified as an idiopathic inflammatory myopathy (IIM) despite significant clinical differences to other IIMs, including a lack of response to conventional immunotherapies [1]. One suggested explanation for this is the presence of highly differentiated cytotoxic T-cells in IBM [2]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - May 2, 2024 Category: Neurology Authors: I Acosta, M Hofer, D Hilton-Jones, W Squier, S Brady Tags: Short communication Source Type: research
Editorial Board
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Source: Neuromuscular Disorders - April 30, 2024 Category: Neurology Source Type: research
Update in Neuromuscular Disorder Course announcement
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Source: Neuromuscular Disorders - April 30, 2024 Category: Neurology Source Type: research
WMS 2024 Congress Flyer
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Source: Neuromuscular Disorders - April 30, 2024 Category: Neurology Source Type: research
WMS 2024 Congress information
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Source: Neuromuscular Disorders - April 30, 2024 Category: Neurology Source Type: research
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Source: Neuromuscular Disorders - April 30, 2024 Category: Neurology Source Type: research
Different neuropsychological and brain volumetric profiles in a pair of identical twins with myotonic dystrophy type 1 indicate a non-genetic modulation of clinical phenotype
Myotonic Dystrophy type 1 (DM1) is an autosomal dominant [1] genetic disorder caused by a CTG triplet repeat expansion within the DM1 protein kinase gene (DMPK) located on chromosome 19q13.3 [2]. DM1 is a heterogeneous multisystemic syndrome characterised by congenital, childhood-juvenile or adult clinical onset [1]. Psychopathological/psychiatric [3-4] and cognitive symptoms including social cognition disorders [5-6] have been previously described. Social cognition is a complex of cognitive and affective functions that entail the recognition of believes and intentions of others (theory of mind), emotional processing, and ...
Source: Neuromuscular Disorders - April 30, 2024 Category: Neurology Authors: Laura Serra, Antonio Petrucci, Michela Bruschini, Annalisa Botta, Corrado Campisi, Carlo Caltagirone, Marco Bozzali Tags: Case report Source Type: research
Pull-ups in Medial Scapular Winging: After or Before ?
A 64-year-old right-handed man came to our out-patient clinic with limited right shoulder motions. He described that the shoulder pain had initially ensued a few hours after a gym session with pull-up exercises. He also added that as the pain had spontaneously subsided and that he had noted scapular winging. He declared that he was out of shape and had not worked out for two years. His past medical history included hypertension, coronary artery disease, and acetyl salicylic acid use. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - April 30, 2024 Category: Neurology Authors: Pelin Analay, Mahmud Faz ıl Aksakal, Ahmad Jasem Abdulsalam, Levent Özçakar Source Type: research
The Limb Girdle Muscular Dystrophy Health Index (LGMD-HI)
Limb girdle muscular dystrophy (LGMD) is a genetically diverse group of rare, autosomal muscular dystrophies caused by mutations in genes encoding proteins that are needed for muscle maintenance, repair and normal function [1,2]. Using next-generation sequencing (NGS), more than 30 subtypes of LGMD at different autosomal loci have been identified in LGMD [2]. Since 2018 these have been categorized with the nomenclature “LGMD D” for autosomal dominant and “LGMD R” for autosomal recessive mutations [3]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - April 29, 2024 Category: Neurology Authors: Joy A. Stouffer, Kameron Bates, Leroy R. Thacker, Chad Heatwole, Nicholas E. Johnson Source Type: research
The motor unit: a chequered history
The Meryon Society has had two previous historical lectures on the motor unit. One by John Pearn from Brisbane in 2001[1] and another by Michael Swash in 2006 [2], both of which emphasised neural aspects of the motor unit. John Pearn spoke of the work of Swammerdam and the beginnings of experimentation on nerves, not just observation. Swammerdam challenged theories on how a nerve could make a muscle contract, beginning the ideas of the neuromuscular junction. Michael Swash also spoke on the historical aspects of innervation and the neuromuscular junction. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - April 26, 2024 Category: Neurology Authors: Caroline A Sewry Source Type: research
Retrospective Analysis of Efgartigimod Use in Patients with Double-seronegative Generalized Myasthenia Gravis: A Case Series
Myasthenia gravis (MG), an autoimmune disease caused by autoantibodies that target proteins at the neuromuscular junction (NMJ), leads to impairment in synaptic transmission at the NMJ, resulting in variable weakness and skeletal muscle fatigability in this disease [1]. MG is classified based on clinical phenotype and type of autoantibodies involved. Most patients (75% –80%) are seropositive for antibodies against acetylcholine receptor (AChR), which consist primarily of IgG1 and IgG3 subtypes; their binding reduces the number and function of AChRs. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - April 23, 2024 Category: Neurology Authors: Kazuhiro Horiuchi, Shuntaro Nakamura, Kazuki Yamada, Takashi Inoue, Kei Oiwa Tags: Case report Source Type: research
Long-term clinical follow-up of a family with Becker muscular dystrophy associated with a large deletion in the DMD gene
Duchenne muscular dystrophy (DMD) is an X-linked, progressive neuromuscular disease caused by mutations in the DMD gene that lead to an absence of functional dystrophin protein [1,2]. DMD affects 1 in 3,600 to 6,000 male neonates worldwide [3,4]. Patients with DMD typically experience motor delays and muscle weakness between 2 and 7 years of age and often have decreased upper limb function, lose ambulation, and become wheelchair-dependent in their early teens [5,6]. Most people with DMD die of cardiac or respiratory failure in their twenties or thirties [1,7,8]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - April 13, 2024 Category: Neurology Authors: Kay E Davies, Julie Vogt Tags: Case report Source Type: research
A rare complex structural variant of novel intragenic inversion combined with reciprocal translocation t(X;1)(p21.2;p13.3) in Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is the most common form of X-linked recessive muscular dystrophy caused by pathogenic variants in the dystrophin (DMD) gene (OMIM:#310200) [1]. Approximately 1 in 5000 live male births suffer from DMD [2]. The most common dystrophin mutations are deletions and duplications, followed by point mutations [3]. Conventional diagnostic techniques, such as multiplex ligation probe amplification (MLPA) or whole exome sequencing (WES), are typically used to detect pathogenic variants in the DMD gene. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - April 11, 2024 Category: Neurology Authors: Yaye Wang, Xinmei Wen, Xin-Ming Shen, Li Di, Yanan Sun, Yun Li, Shu Zhang, Qi Wen, Jingsi Wang, Jianying Duo, Yue Huang, Yan Lu, Min Xu, Min Wang, Hai Chen, Wenjia Zhu, Yuwei Da Tags: Case report Source Type: research
A Novel Deep Intronic Variant in LAMA2 Identified by RNA Sequencing
Laminin-211 is a heterotrimeric protein complex linking the muscle sarcolemma to the extracellular matrix and is composed of alpha2, beta1 and gamma1 chains. This protein is expressed in skeletal muscle, brain, and peripheral nerves [3]. LAMA2-related muscular dystrophy is caused by pathogenic variants of the alpha2 subunit of Laminin. Complete absence of Laminin-211 (also referred to as merosin) typically results in a severe phenotype and is caused by loss of function nonsense variants, while partial merosin deficiency has been reported to be caused by missense, splice site, and in-frame variants [4]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - April 5, 2024 Category: Neurology Authors: Djurdja Djordjevic, Issa Alawneh, Kimberly Amburgey, Kyoko E. Yuki, Lianna G Kyriakopoulou, Vilma Navickiene, Jim Stavropoulos, Grace Yoon, James J Dowling, Hernan Gonorazky Source Type: research
Axial involvement as a prominent feature in SMPX-related distal myopathy
A 78-year-old man with no family history of neuromuscular conditions presented with slowly progressive lower limb weakness with bilateral foot drop started in his late 40s. After age 70 he developed proximal upper limb weakness with difficulties in raising his arms. On examination, he had severe bilateral weakness of ankle dorsiflexion, impairment in arm abduction (possible up to 80 degrees), and mild bilateral scapular winging. Strength in distal upper limb muscles was preserved. Serum CK level was mildly elevated, and EMG was consistent with a myopathy. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - April 3, 2024 Category: Neurology Authors: D. Salman, C. Bolano-Diaz, R. Muni-Lofra, K. Wong, M. Elseed, E Harris, J. Diaz-Manera, M. Guglieri, C. Marini-Bettolo, V. Straub, G. Tasca Tags: Picture of the month Source Type: research
