A systematic literature review and meta-analysis of the effectiveness of vitamin D supplementation for patients with Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is a life-limiting genetic disease that primarily affects boys, characterized by progressive muscle weakness and wasting. Life expectancy for people with DMD is improving, it is now common for individuals to live into their 30 ′s [1–4]. The disease is caused by mutations in the DMD gene, which codes for a protein called dystrophin that is essential for maintaining the structural integrity of muscle fibres [5]. Established treatments focus on managing the symptoms of the disease, such as corticosteroids and physical th erapy, and delaying the progression of muscle weakness to improve qu...
Source: Neuromuscular Disorders - October 15, 2023 Category: Neurology Authors: Jing Guo, Karen Anthony Source Type: research
The use of guidelines to assess the risk of malignant hyperthermia in individuals with an RYR1 variant
Dear editor, (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 14, 2023 Category: Neurology Authors: N. Voermans, C. Yang, M. Schouten, T. Girard, K. Stowell, S. Riazi, E. Kamsteeg, M. Snoeck Source Type: research
Life-Threatening Bowel Complications in Adults with Duchenne Muscular Dystrophy: A Case Series
Duchenne Muscular Dystrophy (DMD) is a progressive muscle wasting disease caused by frame-shift variants in the DMD gene leading to a lack of dystrophin in skeletal, smooth and cardiac muscle. Dystrophin deficiency in the brain can also result in neurocognitive involvement [1]. Without treatment, patients would historically die in their late teens or early adulthood. However, the introduction of a combination of corticosteroid treatment, non-invasive ventilation and formalised standards of care have led to greater overall life expectancy [2]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 13, 2023 Category: Neurology Authors: Luca Nart, Mahalekshmi Desikan, Anton Emmanuel, Ros Quinlivan Source Type: research
Orthognathic Surgery in RYR1-related congenital myopathy: a patient report
Patients with congenital myopathies often have characteristic dentofacial malocclusions that contribute to functional problems with feeding and drooling and psychosocial challenges. The Consensus Statement on Standard of Care for Congenital Myopathies by Wang et al. includes that surgical treatment of severe malocclusion should not be considered given the high risk of perioperative complications [1]. In contrast, a report on three patients with congenital myopathy suggested that orthognathic surgery can be carefully considered. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 13, 2023 Category: Neurology Authors: A.J. van der Kooi, J. de Lange, M. Schouten, M.M.J. Snoeck, W.A. Hofstra, Nicol C Voermans Tags: Picture of the month Source Type: research
Respiratory function in a large cohort of treatment-na ïve adult spinal muscular atrophy patients: a cross-sectional study
Spinal muscular atrophy (SMA) is an autosomal-recessive disease, affecting lower motor neurons and causing progressive motor loss of function with muscle atrophy and weakness [1]. The disease is caused by a homozygous deletion/mutation in the survival motor neuron 1 (SMN1) gene located on chromosome 5q13. The paralogue, SMN2 gene, differs from SMN1 for a C>T substitution in exon 7; SMN2 copy number is variable and acts as a genetic modifier of disease severity [2]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 11, 2023 Category: Neurology Authors: Alex Vicino, Luca Bello, Silvia Bonanno, Alessandra Govoni, Federica Cerri, Manfredi Ferraro, Giuliana Capece, Giulio Gadaleta, Megi Meneri, Veria Vacchiano, Giulia Ricci, Eustachio D'Errico, Irene Tramacere, Paolo Banfi, Sara Bortolani, Riccardo Zanin, M Source Type: research
269th ENMC international workshop: 10 years of clinical trials in Duchenne muscular dystrophy – What have we learned? 9–11 December 2022, Hoofddorp, The Netherlands
The 269th ENMC workshop was held from the 9th to the 11th of December 2022 and brought together 24 representatives from all stakeholder groups that have sought to advance development of new therapeutics in clinical trials in Duchenne muscular dystrophy (DMD), including patients, advocacy groups, researchers, regulators and trial sponsors, and neuromuscular and clinical experts from 5 European countries (Belgium, France, Italy, Netherlands and the UK) and from the United States. The workshop was organised by N. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 10, 2023 Category: Neurology Authors: Karin J. Naarding, Georgia Stimpson, Susan J. Ward, Nathalie Goemans, Craig McDonald, Eugenio Mercuri, Francesco Muntoni, 269th ENMC workshop participants Source Type: research
269th ENMC International Workshop:10 years of Clinical trials in DMD – What have we learned? 9–11 December 2022, The Netherlands
The 269th ENMC workshop was held from the 9th to the 11th of December 2022 and brought together 24 representatives from all stakeholder groups that have sought to advance development of new therapeutics in clinical trials in Duchenne Muscular Dystrophy (DMD), including patients, advocacy groups, researchers, regulators and trial sponsors, and neuromuscular and clinical experts from 5 European countries (Belgium, France, Italy, Netherlands and the UK) and from the United States. The workshop was organised by N. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 10, 2023 Category: Neurology Authors: Karin Naarding, Georgia Stimpson, Susan J. Ward, Nathalie Goemans, Craig McDonald, Eugenio Mercuri, Francesco Muntoni, 269th ENMC workshop participants Source Type: research
Emerging and Established Biomarkers of Oculopharyngeal Muscular Dystrophy
Oculopharyngeal muscular dystrophy (OPMD) is a rare, late onset muscular dystrophy. Autosomal dominant inheritance is typical, but recessive cases have been documented [1 –3]. Common symptoms at onset include ptosis and/or dysphagia [4], with proximal weakness developing later [5]. There is considerable variability in age of symptom onset, even within a family [6–9]. Although there are several potential treatments under investigation, currently, there are no appr oved disease-modifying therapies. Interventions such as levator palpebrae tendon resection or sling surgeries for ptosis lead to prolonged benefit [10–12]. ...
Source: Neuromuscular Disorders - October 6, 2023 Category: Neurology Authors: Ian C. Smith, Shaoni Chakraborty, Pierre R. Bourque, Marcos L. Sampaio, Gerd Melkus, Hanns Lochm üller, John Woulfe, Robin J. Parks, Bernard Brais, Jodi Warman-Chardon Tags: Review Source Type: research
Muscular phenotype description of abnormal THOC2 splicing
Tamhankar et al. recently described a family with X-linked recessive fetal arthrogryposis multiplex congenita associated with a specific mutation in the THOC2 gene at consensus acceptor splice site at intron 22 and exon 23 junction (FIGURE 1A) [1]. No muscle biopsy was performed in this study. Until this recent publication, the disease known to be associated with THOC2 mutations was Intellectual developmental disorder, X-linked 12 (MIM300957). None of the families with this disease reported a fetal phenotype or ultrasound findings of arthrogryposis [1]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 4, 2023 Category: Neurology Authors: Charlotte Dubucs, John Rendu, Laurence Michel-Calemard, Rita Menassa, Maud Langeois, Yvan Nicaise, Jessie Ousselin, Jacqueline Aziza, Emmanuelle Uro-Coste Tags: Case report Source Type: research
Editorial Board
(Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 1, 2023 Category: Neurology Source Type: research
INV01 The strength to explore: a review of NASA experience with muscle atrophy in space
Ever since NASA's early pioneering efforts in long duration spaceflight, beginning with the eight-day Gemini 5 mission in 1965, the spaceflight medicine community has been studying the effects of long duration flight on the health of the astronauts. One of the first and most obvious symptoms observed in the astronauts was muscle atrophy, and ever since, NASA has been researching effective countermeasures to minimize the ill effects of living in a reduced-gravity environment. From our early Skylab space station missions from 1973-74 of one, two, and three-months durations, to our nearly one-year stays aboard the Internation...
Source: Neuromuscular Disorders - October 1, 2023 Category: Neurology Authors: D. Thomas Tags: OPENING CEREMONY LECTURE Source Type: research
INV02 High throughput functional assays to improve interpretation of rare variants discovered in neuromuscular disease genes
The rapidly increasing list of variants of uncertain significance (VUS) discovered in individuals and our inability to interpret clinical consequences of these rare variants is an unappreciated challenge in the diagnosis of rare diseases. Dystroglycanopathies are caused by mutations in enzymes involved in the glycosylation of alpha-dystroglycan (alpha-DG). The underlying pathogenic variants are typically ultra-rare with many unique to affected families. We developed an adaptable workflow called SMuRF (Saturation Mutagenesis-Reinforced Functional assays). (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 1, 2023 Category: Neurology Authors: M. Lek Tags: UNDERSTANDING PHENOTYPIC AND GENETIC DIVERSITY IN NEUROMUSCULAR DISORDERS 1 Source Type: research
INV03 Understanding genetic variants in neuromuscular disorders
Genetic variation in the population explains the diversity of the human condition throughout the globe. The advent of next generation sequencing has allowed scientists and clinicians to understand genetic variability at the single patient level. Moreover, it has demonstrated that some genetic variants in patients are unique to them; raising questions as to their relevance to a clinical phenotype. While most genetic variation includes common variants or polymorphisms that may serve a role in modifying phenotypic presentation, rare genetic variation that is found in a single patient or family can cause diagnostic dilemmas es...
Source: Neuromuscular Disorders - October 1, 2023 Category: Neurology Authors: C. Weihl Source Type: research
O01 Clinical spectrum and molecular features of asymptomatic and paucisymptomatic DMD mutations
In-frame variants in the DMD gene generally cause Becker muscular dystrophy, which ranges in severity from loss of ambulation in the late teenage years to preserved ambulation into the 80s. In recent years, the widespread availability of genetic testing has led to an increased recognition of asymptomatic individuals with DMD variants. We therefore sought to characterize the clinical and molecular features of individuals forming the mildest end of the dystrophinopathy spectrum. Only patients with deletions, duplications, splice site, or nonsense variants were included. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 1, 2023 Category: Neurology Authors: S. Nicolau, A. Meyer, T. Vetter, L. Lowes, L. Alfano, N. Reash, M. Iammarino, E. Frair, C. Tsao, A. Connolly, J. Mendell, M. Waldrop, K. Flanigan Source Type: research
O02 Unpacking gene expression profile to the single nuclei level in human muscle Pompe samples
Understanding the cellular and molecular consequences of alfa-glucosidase deficiency in the skeletal muscles of people with Pompe disease is a key to improving our knowledge of the damage causing mechanisms and could help identify new treatment targets. We performed single nuclei RNA sequencing (snRNAseq) of muscle biopsies of late-onset Pompe disease (LOPD) patients and age/gender-matched healthy controls using 10X Illumina technology. Raw data were analysed by applying Seurat and Cell-Chat packages on R software. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 1, 2023 Category: Neurology Authors: J. Diaz-Manera, A. Monceau, R. Gokul-Nath, O. Musumeci, A. Toscano, G. Papadimas, B. Kierdaszuk, A. Kostera-Pruszczyk, C. Paradas, E. Rivas-Infante, C. Dominguez, A. Hernandez-Lain, J. Lileker, M. Roberts, X. Suarez-Calvet Source Type: research
