“MUSCLE BIOPSY” - its 50th anniversary to this year
None (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - December 16, 2023 Category: Neurology Authors: Hans H. Goebel, Werner Stenzel Tags: Historical paper Source Type: research
Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia
Muscle hypotonia and weakness are common characteristics of nemaline myopathy (NM) and other myopathies caused by pathogenic variants in one of the tropomyosin genes TPM2 and TPM3. Muscle biopsy findings often include small type 1 fibres and larger type 2 fibres, as well as the presence of nemaline bodies [1]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - December 14, 2023 Category: Neurology Authors: Carina Wallgren-Pettersson, Manu Jokela, Vilma-Lotta Lehtokari, Henna Tyynismaa, Markus T Sainio, Emil Ylikallio, Olli Tynninen, Katarina Pelin, Mari Auranen Tags: Case report Source Type: research
The 2024 version of the gene table of neuromuscular disorders (nuclear genome)
This table used to be published annually in the December issue since 2010, but is now published in the January issue. Its purpose is to provide the reader of Neuromuscular Disorders with an updated list of monogenic neuromuscular diseases due to a primary defect residing in the nuclear genome. It comprises diseases in which the causative gene is known or at least localized on a chromosome, if not yet identified. Diseases for which the locus has not been mapped or which are due to defects involving mitochondrial genes are not included. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - December 13, 2023 Category: Neurology Authors: Louise Benarroch, Gis èle Bonne, François Rivier, Dalil Hamroun Source Type: research
270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10 –12 March, 2023, Hoofddorp, the Netherlands
The 270th ENMC workshop aimed to develop a common procedure to optimize the reliability of SMN2 gene copy number determination and to reinforce collaborative networks between molecular scientists and clinicians. The workshop involved neuromuscular and clinical experts and representatives of patient advocacy groups and industry. SMN2 copy number is currently one of the main determinants for therapeutic decision in SMA patients: participants discussed the issues that laboratories may encounter in this molecular test and the cruciality of the accurate determination, due the implications as prognostic factor in symptomatic pat...
Source: Neuromuscular Disorders - December 13, 2023 Category: Neurology Authors: Emanuela Abiusi, Mar Costa-Roger, Enrico Silvio Bertini, Francesco Danilo Tiziano, Eduardo F. Tizzano, all participants Source Type: research
Gene table of monogenic neuromuscular disorders (nuclear genome only)
Vol. 34 No. 1, January 2024 (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - December 13, 2023 Category: Neurology Source Type: research
270th ENMC international workshop: Consensus for SMN2 genetic analysis in SMA patients 10-12 March, 2023, Hoofddorp, the Netherlands
The 270th ENMC workshop aimed to develop a common procedure to optimize the reliability of SMN2 gene copy number determination and to reinforce collaborative networks between molecular scientists and clinicians. The workshop involved neuromuscular and clinical experts and representatives of patient advocacy groups and industry. SMN2 copy number is currently one of the main determinants for therapeutic decision in SMA patients: participants discussed the issues that laboratories may encounter in this molecular test and the cruciality of the accurate determination, due the implications as prognostic factor in symptomatic pat...
Source: Neuromuscular Disorders - December 13, 2023 Category: Neurology Authors: Emanuela Abiusi, Mar Costa-Roger, Enrico Silvio Bertini, Francesco Danilo Tiziano, Eduardo F. Tizzano, all participants Source Type: research
Neurodiversity, Treatment Compliance and Survival in Adults with Duchenne Muscular Dystrophy: A Single-Centre Retrospective Cohort Review
Duchenne Muscular Dystrophy (DMD) is a progressive muscle-wasting disease caused by pathogenic mutations in the DMD gene [1]. These mutations lead to the absence of dystrophin in muscle, resulting in the neuromuscular, cardiac and respiratory features characteristic of the condition [2]. Dystrophin isoforms are also expressed in the brain, and altered production and expression of these proteins is thought to underly the neurocognitive manifestations of DMD [3]. Over the past decade, there has been an increasing awareness of the range of neurodevelopmental disorders seen in patients with DMD, and recent studies have sought ...
Source: Neuromuscular Disorders - December 13, 2023 Category: Neurology Authors: Luca Nart, Mahalekshmi Desikan, Aleksandra Pietrusz, Konstantinos Savvatis, Ros Quinlivan Source Type: research
Understanding anxiety experienced by young males with Duchenne Muscular Dystrophy: a qualitative focus group study
Duchenne muscular dystrophy (DMD) is a life-limiting, X-linked muscle-wasting disorder affecting 1:5000 male births [1], caused by mutations in the DMD gene encoding the protein dystrophin. Lack of dystrophin causes progressive muscle-wasting, cardiomyopathy and can be associated with central nervous system (CNS) disturbance [2]. With current standards of care, average lifespan has increased from two to three decades with further increases likely in future with improving therapies focused on the progressive muscle weakness [3,4]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - December 9, 2023 Category: Neurology Authors: Rachel E. Trimmer, William P.L. Mandy, Francesco Muntoni, Kate E. Maresh Tags: Research paper Source Type: research
Adolescent-Onset Multisystem Proteinopathy due to a Novel VCP Variant
Valosin-containing protein (VCP) is a protein of the AAA+ (ATPase Associated with diverse cellular Activities) family and is involved in various cellular mechanisms, including ubiquitin dependent cellular processes via ubiquitin-proteosome system, autophagy regulation and protein clearance [1 –3]. Pathogenic variants in VCP cause multisystem proteinopathy (MSP) manifesting with inclusion body myopathy (IBM), amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD) and Paget disease of bone (PDB) [4,5]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - December 8, 2023 Category: Neurology Authors: Pannathat Soontrapa, Nathan A. Seven, Teerin Liewluck, Gaofeng Cui, Georges Mers, Margherita Milone Tags: Case report Source Type: research
Remote Respiratory Resistance Exercise Training Improves Respiratory Function in Individuals with VCP Multisystem Proteinopathy
Mutations in the valosin-containing protein (VCP) gene cause an autosomal dominant multisystem proteinopathy, associated with inclusion body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD), also known as VCP disease. VCP, one of the most abundant cytosolic proteins, is involved in cellular processes such as endoplasmic reticulum-associated degradation pathway, nuclear envelope reconstruction, post-mitotic Golgi reassembly, and apoptosis [4]. In affected individuals, heterozygous variants in the VCP gene result in progressive muscle atrophy and weakness in approximately 90%, Paget's disease of bon...
Source: Neuromuscular Disorders - December 7, 2023 Category: Neurology Authors: Madeline Halseth, Ryan Mahoney, Joyce Hsiou, Harrison N. Jones, Virginia Kimonis Source Type: research
Raised CK and acute kidney injury following intense exercise in three patients with a history of exercise intolerance due to homozygous mutations in SLC2A9.
Acute rhabdomyolysis (AR) leads to myoglobinuria, which in turn may cause acute kidney injury requiring dialysis. The most useful biomarker for AR is the serum creatine kinase (CK) which is acutely elevated to at least 5-10x the upper limit of normal, although the level may be considerably higher due to extensive skeletal muscle damage [1]. There are many causes of acute rhabdomyolysis [2], however, the most common presentation to emergency departments follows some form of physical activity in people with either metabolic muscle disease (glycogen storage disorders and fatty acid oxidation disorders) or following intense un...
Source: Neuromuscular Disorders - December 6, 2023 Category: Neurology Authors: Ros Quinlivan, Elaine Murphy, Shpresa Pula, Alexandra Pain, Henrietta Brain, Grace Scopes, Frenki Gjika, Naim Ahmadouk, Andreea Manole, Henry Houlden Source Type: research
Gain and loss of upper limb abilities in Duchenne Muscular Dystrophy patients: A 24-month study
Duchenne muscular dystrophy (DMD) is an X-linked neuromuscular disease that affects around 1 in 3600 live male births [1]. As part of the disease course, there is a progressive reduction of strength, function, resulting in loss of ambulation and upper limb function [1,2]. Increasing attention has been paid to outcome measures that can assess function across the spectrum of functional abilities, from ambulant to non-ambulant [3 –8]. One such outcome is the Performance of upper limb (PUL) test developed by the international Performance of the Upper Limb Working Group in 2013 to evaluate upper limb function in ambulant and ...
Source: Neuromuscular Disorders - December 2, 2023 Category: Neurology Authors: Giorgia Coratti, Marika Pane, Claudia Brogna, Adele D'Amico, Elena Pegoraro, Luca Bello, Valeria A. Sansone, Emilio Albamonte, Elisabetta Ferraroli, Elena Stacy Mazzone, Lavinia Fanelli, Sonia Messina, Maria Sframeli, Michela Catteruccia, Gianpaolo Cicala Tags: Research paper Source Type: research
Corrigendum to “NMNAT1 and hereditary spastic paraplegia (HSP): Expanding the phenotypic spectrum of NMNAT1 variants” [Neuromuscular Disorders, 33(2023) 295-301]
The authors regret for not including the proposal's ethics approval number in Ethical Standards section. The corrected section is as below. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - December 2, 2023 Category: Neurology Authors: Zahra Sadr, Aida Ghasemi, Mohammad Rohani, Afagh Alavi Source Type: research
Bone quality in LAMA2-related muscular dystrophy and SELENON-related congenital myopathy, a one-year prospective natural history study
LAMA2-related muscular dystrophy (LAMA2-MD) and SELENON-related congenital myopathy (SELENON-RM) are rare neuromuscular diseases characterized by proximal and axial muscle weakness, spinal rigidity and respiratory muscle weakness [1 –3]. As part of routine clinical care, we encountered numerous patients who additionally reported a medical history of fragility long bone fractures (LBFs). Fragility LBFs have been reported in congenital myopathies, both congenital LBFs and LBFs later at life [4]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - December 2, 2023 Category: Neurology Authors: Karlijn Bouman, Anne T.M. Dittrich, Jan T. Groothuis, Baziel G.M. van Engelen, Heidi Zweers-van Essen, Anja de Baaij-Daalmeyer, Mirian C.H. Janssen, Corrie E. Erasmus, Jos M.T. Draaisma, Nicol C. Voermans Tags: Research paper Source Type: research
Continued safety and long-term effectiveness of onasemnogene abeparvovec in Ohio
5q spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease caused by absence of the SMN1 gene[1]. Absence of SMN1 leads to insufficient survival motor neuron protein resulting in motor neuron degeneration. This manifests as progressive weakness, muscle atrophy, bulbar and respiratory weakness. Disease severity is determined largely by SMN2 copy number because each copy allows the individual to make some survival motor neuron protein [1]. Historically, phenotype was determined by highest level of motor function achieved. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - December 2, 2023 Category: Neurology Authors: Megan A Waldrop, Shannon Chagat, Michael Storey, Alayne Meyer, Megan Iammarino, Natalie Reash, Lindsay Alfano, Linda Lowes, Garey Noritz, Andre Prochoroff, Ian Rossman, Matthew Ginsberg, Kathryn Mosher, Eileen Broomall, Nancy Bass, Courtney Gushue, Kavith Source Type: research
