Fatigue is a common and potentially debilitating symptom of neuromuscular disease (NMD). Studies show that patients with NMD subjectively report increased levels of fatigue. Laboratory testing has demonstrated that patients with NMD show objective physiological signs of increased fatigue, with both central and peripheral components. To date, no treatment has been proven to be truly effective through evidence-based medicine. Thus, the clinician must use a multimodality approach to treating fatigue in patients with NMD. Management interventions are generally based on a sequential approach including treatment of comorbid factors, with the goal of maximizing physical and psychological functioning. This might include low-intensity exercise training, cognitive therapy, treatment of associated depression, correction of risk factors such as obesity, poor nutrition, and inactivity (deconditioning). Optimizing cardiopulmonary function is also critical and measures such as noninvasive, positive pressure ventilation may reduce fatigue in patients with NMD. Novel medications such as modafinil, a nonamphetamine stimulant, may be a helpful pharmacological treatment. Nutraceutical agents, such as creatine monohydrate, coenzyme Q10 (CoQ10), and alpha-lipoic acid, may also improve neuromuscular function and reduce fatigue.
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http://dx.doi.org/10.1177/1049909109358420 | DOI Listing |
PLOS Digit Health
January 2025
Centre Référent Maladies Rares Neuromusculaires, Service de Médecine Physique et de Réadaptation Pédiatrique des Hospices Civils de Lyon - Hôpital Femme Mère Enfant, Bron, France.
Unlabelled: Among the 32 items of the Motor Function Measure scale, 3 concern the assessment of hand function on a paper-based support. Their characteristics make it possible to envisage the use of a tablet instead of the original paper-based support for their completion. This would then make it possible to automate the score to reduce intra- and inter-individual variability.
View Article and Find Full Text PDFNeurology
January 2025
The Dubowitz Neuromuscular Centre, Developmental Neurosciences Department, University College London, Great Ormond Street Institute of Child Health, United Kingdom.
Background And Objectives: Safety and efficacy of IV onasemnogene abeparvovec has been demonstrated for patients with spinal muscular atrophy (SMA) weighing <8.5 kg. SMART was the first clinical trial to evaluate onasemnogene abeparvovec for participants weighing 8.
View Article and Find Full Text PDFNeuromuscul Disord
December 2024
School of Medicine, The University of Notre Dame Australia, Fremantle, Western Australia, Australia; Centre for Molecular Medicine & Innovative Therapeutics, Murdoch University, Murdoch, Western Australia, Australia; Perron Institute of Neurological and Translational Sciences, Nedlands, Western Australia, Australia; Department of Neurology, Fiona Stanley Hospital, Murdoch, Western Australia, Australia.
Inclusion body myositis (IBM) is an inflammatory myopathy, characterised by slow progression of weakness, skeletal muscle atrophy, and heterogeneous clinical presentation. This variability in disease progression and presentation complicates tracking of clinical progress and intervention response in clinical trials, presenting challenges in identifying reliable outcome measures. We aimed to identify the most useful suite of clinician-assessed and patient-reported outcome measures (PROMs) for use in clinical practice and trials from a selection of the most commonly used outcome measures in IBM.
View Article and Find Full Text PDFNeuromuscul Disord
December 2024
Service de Neuromyologie, Centre de référence des maladies neuromusculaires Nord/Est/Ile de France Institut de Myologie, Sorbonne Université, APHP, Paris, France. Electronic address:
Dysferlinopathies, caused by mutations in the dysferlin gene (DYSF) encoding the dysferlin protein, are a clinically heterogeneous group of autosomal recessive muscular dystrophies whose phenotypic spectrum is still evolving. Here we described a patient reporting diffuse muscular pain non related to physical exercise, mimicking fibromyalgic syndrome. Electroneuromyography was normal.
View Article and Find Full Text PDFNeuromuscul Disord
January 2025
Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan; Translational Medical Center, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
Fukuyama congenital muscular dystrophy (FCMD) is the second most common childhood-onset muscular dystrophy in Japan. However, only a few comprehensive studies have investigated cardiac complications associated with FCMD, with none on arrhythmias. The present study evaluated 78 Holter electrocardiograms from 15 patients with FCMD.
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