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
No abstract text is available yet for this article.
April 4, 2024: Neuromuscular Disorders: NMD
Norma Beatriz Romero, J Andoni Urtizberea, Susana Quijano-Roy
No abstract text is available yet for this article.
April 1, 2024: Neuromuscular Disorders: NMD
Luca Nart, Anton Emmanuel, Rosaline Quinlivan
No abstract text is available yet for this article.
March 23, 2024: Neuromuscular Disorders: NMD
Katherine C Dodd, Rohan Ahmed, Philip Ambrose, James Kl Holt, Saiju Jacob, M Isabel Leite, James Al Miller, Pyae Phyo San, Jennifer Spillane, Stuart Viegas, Jon Sussman
Azathioprine is recommended as the first-line steroid-sparing immunosuppressive agent for myasthenia gravis. Mycophenolate and methotrexate are often considered as second-line choices despite widespread consensus on their efficacy. We aimed to gather real-world data comparing the tolerability and reasons for discontinuation for these agents, by performing a national United Kingdom survey of side effects and reasons for discontinuation of immunosuppressants in myasthenia gravis. Of 235 patients, 166 had taken azathioprine, 102 mycophenolate, and 40 methotrexate...
March 21, 2024: Neuromuscular Disorders: NMD
Sabri Selcuk Atamanalp, Esra Disci, Rifat Peksoz
No abstract text is available yet for this article.
March 21, 2024: Neuromuscular Disorders: NMD
Emily C Storey, Ian Holt, Sharon Brown, Silvia Synowsky, Sally Shirran, Heidi R Fuller
LMNA-related congenital muscular dystrophy (L-CMD) is caused by mutations in the LMNA gene, encoding lamin A/C. To further understand the molecular mechanisms of L-CMD, proteomic profiling using DIA mass spectrometry was conducted on immortalized myoblasts and myotubes from controls and L-CMD donors each harbouring a different LMNA mutation (R249W, del.32 K and L380S). Compared to controls, 124 and 228 differentially abundant proteins were detected in L-CMD myoblasts and myotubes, respectively, and were associated with enriched canonical pathways including synaptogenesis and necroptosis in myoblasts, and Huntington's disease and insulin secretion in myotubes...
March 15, 2024: Neuromuscular Disorders: NMD
Caio Roberto Aparecido de Paschoal Castro, Rafael Santos Ferreira da Silva, Kaitiana Martins da Silva, Márjory Harumi Nishida, Carolina Vasquez Valenci Rios, Douglas Martins Braga
Duchenne Muscular Dystrophy (DMD) is one of the most frequent childhood dystrophies, affecting cardiopulmonary functions and walking ability. One of the main symptoms is fatigue, which is caused by altered muscle metabolism related to energy expenditure (EE). Aquatic physiotherapy is a therapeutic modality that facilitates the maintenance of this posture because of immersion on the body. This cross-sectional observational study aimed to compare the EE on the ground and water of individuals with DMD through oxygen consumption in the maintenance of sitting posture...
March 12, 2024: Neuromuscular Disorders: NMD
Limin Li, Manoj P Menezes, Melanie Smith, Robin Forbes, Stephan Züchner, Amber Burgess, Ian R Woodcock, Martin B Delatycki, Eppie M Yiu
5q-associated spinal muscular atrophy (SMA) is the most common autosomal recessive neurological disease. Depletion in functional SMN protein leads to dysfunction and irreversible degeneration of the motor neurons. Over 95 % of individuals with SMA have homozygous exon 7 deletions in the SMN1 gene. Most of the remaining 4-5 % are compound heterozygous for deletion and a disease-associated sequence variant in the non-deleted allele. Individuals with SMA due to bi-allelic SMN1 sequence variants have rarely been reported...
March 12, 2024: Neuromuscular Disorders: NMD
M Pennuto, P F Pradat, G Sorarù, L Greensmith
The workshop held in the Netherlands from October 20-22, 2023, united 27 scientists from academia, healthcare, and industry representing 11 countries, alongside four patient and charity representatives. Focused on Kennedy's Disease (KD), also known as spinal and bulbar muscular atrophy (SBMA), the workshop aimed to consolidate knowledge, align on clinical trial designs, and promote participative medicine for effective treatments. Discussions emphasized KD's molecular mechanisms, highlighting its status as a neuromuscular disorder with motor neuron degeneration...
March 11, 2024: Neuromuscular Disorders: NMD
Katlyn McGrattan, Antonella Cerchiari, Eleanor Conway, Beatrice Berti, Richard Finkel, Francesco Muntoni, Eugenio Mercuri
Progressive bulbar involvement is frequent in spinal muscular atrophy, with prevalence and severity of deficits associated with type. The report provides an overview of the presentations made at the workshop grouped into 4 sessions: the first section was dedicated to videofluoroscopy with a revision of the existing protocols and discussion on which one should be used in routine clinical practice and in research settings. The second session was dedicated to interprofessional routine assessments of bulbar function, with a review of the recent clinical tools specifically developed for SMA...
March 8, 2024: Neuromuscular Disorders: NMD
James B Lilleker, Elie Naddaf, Christiaan G J Saris, Jens Schmidt, Marianne de Visser, Conrad C Weihl
Since the publication of the 2013 European Neuromuscular Center (ENMC) diagnostic criteria for Inclusion Body Myositis (IBM), several advances have been made regarding IBM epidemiology, pathogenesis, diagnostic tools, and clinical trial readiness. Novel diagnostic tools include muscle imaging techniques such as MRI and ultrasound, and serological testing for cytosolic 5'-nucleotidase-1A antibodies. The 272nd ENMC workshop aimed to develop new diagnostic criteria, discuss clinical outcome measures and clinical trial readiness...
March 7, 2024: Neuromuscular Disorders: NMD
Nicholas C Cottam, Melissa A Harrington, Pamela M Schork, Jianli Sun
Spinal muscular atrophy (SMA) is an autosomal recessive disease that affects 1 out of every 6,000-10,000 individuals at birth, making it the leading genetic cause of infant mortality. In recent years, reports of sex differences in SMA patients have become noticeable. The SMNΔ7 mouse model is commonly used to investigate pathologies and treatments in SMA. However, studies on sex as a contributing biological variable are few and dated. Here, we rigorously investigated the effect of sex on a series of characteristics in SMA mice of the SMNΔ7 model...
March 5, 2024: Neuromuscular Disorders: NMD
Sheila Hawkins
This paper explores how people with limited mobility choose and buy clothes, and how this could be improved, both for them and for retailers. It reports on an online survey carried out May-September 2023, asking people with limited mobility about their experiences, shows the practical difficulties they encounter and makes recommendations for retailers to improve their offer and reach to this group of consumers.
February 29, 2024: Neuromuscular Disorders: NMD
Ethan Williams, Ian Cooper, Kelly Beer, Kathryn Hird, Vinicius Cavalheri, Kathryn Watson, Merrilee Needham
Inclusion Body Myositis is the most common acquired myositis in adults, predominantly weakening forearm flexor and knee extensor muscles. Subclinical respiratory muscle weakness has recently been recognised in people with Inclusion Body Myositis, increasing their risk of respiratory complications. Inspiratory muscle training, a technique which demonstrates efficacy and safety in improving respiratory function in people with neuromuscular disorders, has never been explored in those with Inclusion Body Myositis...
February 22, 2024: Neuromuscular Disorders: NMD
Alessia Perna, Luca Bosco, Fabiana Fattori, Eleonora Torchia, Anna Modoni, Manuela Papacci, Antonio Petrucci, Giorgio Tasca, Enzo Ricci, Enrico Silvio Bertini, Gabriella Silvestri
This report describes a novel TTN -related phenotype in two brothers, both affected by a childhood onset, very slowly progressive myopathy with cores, associated with dilated cardiomyopathy only in their late disease stages. Clinical exome sequencing documented in both siblings the heterozygous c.2089A>T and c.19426+2T>A variants in TTN. The c.2089A>T, classified in ClinVar as possibly pathogenic, introduces a premature stop codon in exon 14, whereas the c.19426+2T>A affects TTN alternative splicing...
February 8, 2024: Neuromuscular Disorders: NMD
J Van Tienen, C van Geenen, N B Voet, L Servais, N C Voermans
No abstract text is available yet for this article.
January 26, 2024: Neuromuscular Disorders: NMD
Jeppe Blichfeldt Winther, Jeanette Jeppesen Morgen, Martin Skov, Martin Gruwier Broch-Lips, Ole Bækgaard Nielsen, Kristian Overgaard, Thomas Holm Pedersen
Everyday physical activities, such as walking, are enabled by repeated skeletal muscle contractions and require a well-functioning neuromuscular transmission. In myasthenic disorders, activities of daily living are debilitated by a compromised neuromuscular transmission leading to muscle weakness and fatiguability in patients. To enable physical activity, acetylcholine (ACh) is released repeatedly from the motor nerve, however, the role of the nerve terminals' capacity to sustain ACh release to support repetitive contractions under compromised neuromuscular transmission remains unclear...
March 2024: Neuromuscular Disorders: NMD
Benjamin Englert, Carsten Dittmayer, Hans-Hilmar Goebel, Udo Schneider, Marie-Therese Holzer, Akinori Uruha, Werner Stenzel
Anti-MDA5-positive dermatomyositis (MDA5-DM) often presents with extramuscular, especially pulmonary and skin manifestations, and apparent clinical signs of frank myositis can be missing (so called amyopathic DM). We hereby present two male patients who died from respiratory failure during the course of MDA5-DM. While overt signs of myositis or any skin involvement were absent at admission to hospital we noticed conspicuous inflammatory alterations in various skeletal muscles morphologically, showing different degrees of affection...
March 2024: Neuromuscular Disorders: NMD
Willem De Ridder, Laurens Van Herck, Gert Cypers, Isabelle Ravelingien, Jonathan Baets
Contracturing granulomatous myositis is a rare myopathy in which patients present with flexion contractures of the upper limbs in addition to slowly progressive muscle weakness and pain. Whether it represents a distinct nosological entity remains a point of discussion. We present a patient with isolated granulomatous disease of the muscle that responded very well to intravenous immunoglobulins after treatment failure of corticosteroids and methotrexate.
March 2024: Neuromuscular Disorders: NMD
Francesca Cumbo, Michele Tosi, Michela Catteruccia, Daria Diodato, Francesco Nicita, Irene Mizzoni, Giacomo De Luca, Adelina Carlesi, Paolo Alfieri, Stefano Vicari, Enrico Silvio Bertini, Adele D'Amico
It has long been reported that neuropsychological deficits may be present in dystrophinopathies, specifically non-progressive cognitive impairment and a global deficit in executive functions; this neurocognitive profile has been less explored in patients with Becker than Duchenne muscular dystrophy (BMD/DMD). We conducted a longitudinal study to explore the evolution of neuropsychological and behavioural profile in a cohort of paediatric BMD. Seventeen patients with BMD without intellectual disability were assessed using a full battery of tests, including intellectual, adaptive and executive functioning, language and behavioral features...
March 2024: Neuromuscular Disorders: NMD
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