Cost-effectiveness of spinal muscular atrophy newborn screening based on real-world data in Belgium
Spinal muscular atrophy (SMA) is an autosomal recessive disorder that affects 1 in 10,000 newborns [1,2]. SMA is linked in 95% of cases to a homozygous deletion of the SMN1 gene, the remaining 5% are caused by a heterozygous deletion and a point mutation on the other allele. Humans possess a variable number of copies of a closely related gene, SMN2 [3]. The severity of SMA depends largely on SMN2 copy number, with lower copy numbers associated with a more severe phenotype [4], but several exceptions and other genetic modifiers have been reported. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - December 2, 2023 Category: Neurology Authors: Tamara Dangouloff, Praveen Thokala, Matthew D Stevenson, Nicolas Deconinck, Ad èle D'Amico, Aurore Daron, Stephanie Delstanche, Laurent Servais, Mickael Hiligsmann Source Type: research
Editorial Board
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Source: Neuromuscular Disorders - December 1, 2023 Category: Neurology Source Type: research
ENMC Themed Call 2023-2024 Announcement
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Source: Neuromuscular Disorders - December 1, 2023 Category: Neurology Source Type: research
WMS 2024 Congress Flyer
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Source: Neuromuscular Disorders - December 1, 2023 Category: Neurology Source Type: research
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Source: Neuromuscular Disorders - December 1, 2023 Category: Neurology Source Type: research
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Source: Neuromuscular Disorders - December 1, 2023 Category: Neurology Source Type: research
A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy
Mutations in the gene for skeletal muscle α-actin 1 (ACTA1), expressed in skeletal muscle tissue, are a common cause of congenital myopathies. ACTA1 mutations often lead to severe congenital nemaline myopathy (NM) but may, in some instances, cause much milder muscle weakness [1]. Depending on the definitions used, ACTA1-caused myopathies m ay, besides NM [2], be termed: actin myopathy, congenital fibre type disproportion [3], cap myopathy, core-rod myopathy [4], zebra body myopathy [1,5], intranuclear rod myopathy [6], slowly progressive scapuloperoneal myopathy with late respiratory involvement [7], and distal NM [8]. (S...
Source: Neuromuscular Disorders - November 29, 2023 Category: Neurology Authors: Vilma-Lotta Lehtokari, Lydia Sagath, Mark Davis, Desiree Ho, Kirsi Kiiski, Kaisa Kettunen, Matthew Demczko, Riki Stein, Matteo Vatta, Thomas L. Winder, Adi Shohet, Naama Orenstein, Peter Krcho, Peter Bohu š, Sanna Huovinen, Bjarne Udd, Katarina Pelin, Ni Tags: Research paper Source Type: research
Response to: The use of guidelines to assess the risk of malignant hyperthermia in individuals with a RYR1 variant
We want to thank N. Voermans et al. [1] for their critical comments to our publication [2]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - November 21, 2023 Category: Neurology Authors: S. Herdewyn, J. De Bleecker, L. Janssens, S. Symoens, M. Milazzo, J. De Puydt Tags: Letter to the editor Source Type: research
Letter in response to: The use of guidelines to assess the risk of malignant hyperthermia in individuals with a RYR1 variant, by N. Voermans, C. Yang, M. Schouten, T. Girard, K. Stowell, S. Riazi et al.
We want to thank this group of renowned authors for their critical comments to our publication. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - November 21, 2023 Category: Neurology Authors: S. Herdewyn, J. De Bleecker, L. Janssens, S. Symoens, M. Milazzo, J. De Puydt Tags: Reply to the letter Source Type: research
HNRNPA2B1 myopathy presenting in a family with an early onset oculopharyngeal muscular dystrophy-like phenotype
Genetic variation at HNRNPA2B1 was first implicated in neuromuscular disease in a family with myopathy and Paget's disease, with a frequent co-occurrence of cognitive impairment and motor neurone disease [1]. The clinic-pathological phenotype that was felt to be of a Multi-System Proteinopathy (MSP) [2,3], though variation at HNRNPA2B1 is unlikely to explain many instances of MSP or motor neurone disease [4 –6]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - November 15, 2023 Category: Neurology Authors: Liam S Carroll, Sarah Ennis, Nicola Foulds, Simon R Hammans Tags: Case report Source Type: research
Acetaminophen treatment in children and adults with spinal muscular atrophy: a lower tolerance and higher risk of hepatotoxicity
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron 1 (SMN1) gene on chromosome 5q12 [1]. Bi-allele deficiency of SMN1 causes degeneration of the anterior horn cells of the spinal cord, resulting in progressive muscular weakness and atrophy. Based on the age of onset and disease severity, SMA is divided into subtypes from I to IV [1]. The natural history of untreated SMA type I and type II (SMA II) renders patients wheelchair dependent and unable to walk at any time [1]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - November 15, 2023 Category: Neurology Authors: Marie Mostue Naume, Qiaolin Zhao, Sissel Sundell Haslund-Krog, Thomas Krag, Brenda C.M.de Winter, Karoline Lolk Revsbech, John Vissing, Helle Holst, Morten Hylander M øller, Tessa Munkeboe Hornsyld, Morten Dunø, Christina Engel Høi-Hansen, Alfred Peter Tags: Research paper Source Type: research
In Memoriam: Dr Martin S Schwartz MD (Baltimore) FRCP (London) 1941 –2023
Martin was born in Baltimore, Maryland, into a Jewish family with professional connections in medicine and music. His father was a graduate of the Peabody Conservatory of Music in Baltimore, and a violinist in the Baltimore Symphony Orchestra. Martin entered the University of Maryland School of Medicine at the early age of 17 years, where he was much influenced by the neurologist and neurophysiologist Dr Richard F Mayer (1929 –2016). Dick Mayer, after medical school in Buffalo NY, had trained in Neurology at the Massachusetts General Hospital in Boston and then at Queen Square, London, before his lifelong appointment in ...
Source: Neuromuscular Disorders - November 13, 2023 Category: Neurology Authors: Michael Swash Tags: Obituary Source Type: research
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry
Pompe disease, also known as glycogen storage disease type II, is a rare genetic condition produced by mutations in the GAA gene that encodes the acid alpha-glucosidase enzyme [1]. This lysosomal enzyme is responsible for the breakdown of glycogen into glucose leading to accumulation of glycogen in cells of all tissues of the body [2]. However, patients mainly develop symptoms related to dysfunction of smooth, cardiac and skeletal muscles and, neurons of the central nervous system [2]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - November 13, 2023 Category: Neurology Authors: Rafael Jenaro Martinez-Marin, David Reyes-Leiva, Andr és Nascimento, Nuria Muelas, C. Dominguez-González, Carmen Paradas, Montse Olivé, Samuel Ignacio Pascual Pascual, Josep Maria Grau, Miguel Angel Barba-Romero, Maria Teresa Gomez-Caravaca, Javier de Source Type: research
Fatigue and associated factors in 172 patients with McArdle disease: an international web-based survey
McArdle disease is an autosomal, recessively inherited metabolic disorder caused by pathogenic variants in the myophosphorylase gene (PYGM) [1], leading to a virtual absence of the enzyme myophosphorylase in skeletal muscle [2]. Consequently, patients cannot obtain energy from their muscle glycogen stores. The blocked muscle glycogen breakdown clinically presents itself as physical activity (PA) intolerance, muscle fatigue, and PA/exercise-induced muscle pain, which can lead to the feeling of loss of power, and in severe cases to muscle contractures and even rhabdomyolysis and myoglobinuria [3]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - November 10, 2023 Category: Neurology Authors: Anna Slipsager, Linda Kahr Andersen, Nicol Cornelia Voermans, Alejandro Lucia, Walaa Karazi, Alfredo Santalla, John Vissing, Nicoline L økken Source Type: research
Magnetic resonance imaging-based criteria to differentiate dysferlinopathy from other genetic muscle diseases
Limb girdle muscular dystrophies (LGMD) are a group of more than 30 genetic diseases characterized by weakness initially affecting the proximal muscles of the limbs, spreading towards other muscles as the disease progresses, and the existence of dystrophic changes seen in the muscle biopsy [1]. Differentiating between LGMDs based solely on clinical data is a difficult task because patients usually present with similar phenotypes. The task can be made easier if muscle biopsy and imaging data are obtained to complement the genetic studies. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - November 9, 2023 Category: Neurology Authors: Carla Bolano-Diaz, Jos é Verdú-Díaz, Alejandro Gonzalez-Chamorro, Sam Fitzsimmons, Gopi Veeranki, Volker Straub, Jordi Diaz-Manera Tags: Research paper Source Type: research
