筋ジストロフィー

BackgroundWheelchair users with muscular dystrophy face health challenges from their condition, sedentary lifestyle, and wheelchair use. While exercise benefits are well-documented in healthy individuals, its effects in wheelchair users with muscular dystrophy are underexplored: low muscle mass might limit exercise benefits. This study investigates benefits and adverse events of assisted leg cycling to improve fatigue, pain, constipation, and quality of life in wheelchair users with muscular dystrophy.MethodsWheelchair users with muscular dystrophy were tested at baseline, after a 10-week control period, and after 10 weeks of assisted leg cycling (20 minutes, 3 times/week). Efficacy outcomes were changes in fatigue, lower back/leg pain, constipation, and quality of life. Secondary outcomes included changes in exercise performance, cardiovascular response, and metabolic health. A 1.5-year follow-up of voluntary training evaluated long-term effects.ResultsNineteen participants enrolled; two dropped out. Lower back pain and fatigue decreased and physical quality of life improved. Constipation did not change overall but improved in more than half of participants. HbA1c decreased by 2 mmol/mol, mainly in two participants with diabetes. Blood lipids, leg pain, cycling time, and power output showed no changes. Benefits persisted or improved over 1.5 years in participants with a high adherence.DiscussionAssisted cycling may reduce lower back pain, improve quality of life, and possibly decrease fatigue and constipation in wheelchair users with muscular dystrophy. Furthermore, exercise likely lowers HbA1c, particularly in individuals with diabetes. These findings suggest that assisted cycling is a feasible health intervention for wheelchair users with muscular dystrophy.

ObjectiveMyoclonus is a hyperkinetic movement disorder characterized by sudden, involuntary jerks due to muscle contraction or brief lapses of muscular activity and may arise from diverse conditions. When accompanied by cerebellar dysfunction and retinal involvement, it suggests a heterogeneous spectrum of disorders, including mitochondrial, repeat-expansion, and other inherited neurogenetic disorders. In Malaysia, the diagnosis of rare diseases remains challenging because of phenotypic overlap and resource limitations. We illustrate the diagnostic dilemma of a possible mitochondrial disorder when definitive testing is not readily accessible.MethodsWe describe a woman in her early 40s with childhood-onset myoclonic jerks, progressive gait instability, cerebellar signs, and cognitive decline.ResultsOphthalmic assessment showed reduced visual acuity, optic disc pallor, and electroretinographic findings consistent with cone-rod dystrophy. Audiometry demonstrated bilateral sensorineural hearing loss. Brain computed tomography showed cerebral and cerebellar atrophy. Muscle biopsy revealed preserved architecture without ragged-red fibers, but oxidative enzyme histochemistry showed subsarcolemmal mitochondrial aggregates suggestive of mitochondrial dysfunction. Whole-exome sequencing did not identify a causative variant. Given the combination of cerebellar features and retinal dystrophy, a repeat-expansion disorder, particularly spinocerebellar ataxia type 7, remained a key differential diagnosis. Targeted repeat-expansion testing and mitochondrial deoxyribonucleic acid analysis were not performed because of patient-centered considerations. Despite disease progression, multidisciplinary follow-up was maintained, including structured physiotherapy and annual ophthalmologic surveillance.ConclusionThis case highlights the importance of pragmatic care planning in resource-limited settings and maintaining comprehensive care for patients without a definitive molecular diagnosis. It also emphasizes the need to strengthen rare disease diagnostic pathways to support shared decision making.

OBJECTIVES: Medical nutrition therapy significantly impacts cardiovascular risk and overall health, but effects on muscle diseases remain unclear. This systematic review evaluates the safety and efficacy of dietary interventions and supplements on muscle disease outcomes. METHODS: A multidisciplinary team conducted a PRISMA-guided systematic review registered on PROSPERO. Searches were conducted across multiple databases and screened against pre-specified inclusion criteria. RESULTS: Of 107 full-text articles screened, 51 met inclusion criteria. Most identified interventions used dietary supplements rather than whole dietary approaches. In inflammatory myopathies, creatine (loading dose 20 g/day, maintenance 3 g/day) combined with exercise improved high-intensity functional performance in polymyositis and dermatomyositis over 6 months. In Duchenne muscular dystrophy, creatine (2-10 g/day for 8-16 weeks) improved maximal voluntary contraction and fatigue resistance. Carbohydrate-rich diets (65% CHO) reduced exercise-related symptoms in McArdle disease, while high-dose creatine (150 mg/kg/day) paradoxically worsened symptoms. Four trials of aceneuramic acid (6 g/day for 48 weeks) in GNE myopathy demonstrated dose-dependent strength improvements, leading to regulatory approval in Japan. High-protein supplementation showed positive trends for muscle preservation in critical illness myopathy. Quality assessment revealed 31% at low risk of bias, 49% with some concerns, and 20% at high risk. CONCLUSION: Evidence for nutritional interventions in muscle diseases remains limited, especially for inflammatory myopathies. The strongest support emerged for mechanistically targeted approaches: creatine with exercise, carbohydrate-rich and ketogenic diets in McArdle disease, and sialic acid in GNE myopathy. Future research requires adequately powered multicentre trials with standardised outcomes, with focus on inflammatory myopathies.

Duchenne muscular dystrophy (DMD) is a progressive, multisystem disease requiring long-term monitoring of respiratory, cardiac, and functional status. Advances in care have extended survival, increasing the need for continuous, coordinated management. In parallel, digital health technologies have enabled remote monitoring and data collection outside traditional clinical settings. This Viewpoint examines the role of device-based remote monitoring in DMD and argues that it should be understood as an emerging multisystem digital surveillance framework rather than a collection of isolated technologies. This Viewpoint is based on a synthesis of published literature on device-based remote monitoring and digital health technologies in DMD and experiences at our center. The aim was to outline the current clinical and technological landscape and support an interpretive perspective. Device-based monitoring in DMD encompasses a range of technologies, including home spirometry, ventilator-integrated telemonitoring, wearable activity sensors, cardiac rhythm monitoring, and interactive rehabilitation systems. These approaches enable longitudinal assessment of physiological and functional parameters in real-world settings. However, the current evidence base is heterogeneous and largely limited to feasibility studies, small cohorts, and extrapolated data. While data acquisition is technically feasible and increasingly available, integration into clinical workflows remains constrained by the lack of validated digital biomarkers, standardized monitoring frameworks, and interoperable data systems. Remote monitoring in DMD is evolving toward a connected, multisystem model of disease surveillance. Its clinical impact will depend on the validation of digital end points, development of decision support frameworks, and integration into multidisciplinary care pathways. Bridging the gap between data generation and clinical decision-making remains a key priority for future research and implementation. These findings support a shift from isolated technologies toward a coordinated, clinically integrated model of multisystem care in DMD.

INTRODUCTION: Recently, Molecular diagnosis of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) has become increasingly important in the management of these patients, with techniques such as multiplex ligation-dependent amplification (MLPA) and next-generation sequencing (NGS) coming to the fore. Therefore, this study aims to evaluate the diagnostic accuracy of MLPA, NGS, and the algorithm MLPA-NGS for confirmatory diagnosis of DMD/BMD. METHODS: We systematically searched databases (PubMed, Embase, Scopus, Cochrane and Web of Science) until July 2025 for studies evaluating the diagnostic accuracy of MLPA and/or NGS testing in patients with clinical suspicion of DMD, considering multiplex PCR or biopsy as the reference test. A meta-analysis was performed using a random-effects model to estimate the sensitivity, specificity, and detection rate of each test. The QUADAS-2 tool was used to assess the risk of bias and the GRADE criteria were used to identify the certainty of evidence. RESULTS: We included 10 studies (3786 patients) evaluating the use of MLPA and 14 studies (4333 patients) evaluating the use of NGS. For MLPA, the sensitivity was 0.80 (95%CI: 0.76-0.84; I2: 86%), the specificity was 0.93 (95%CI: 0.87-0.96; I2: 16%), and AUC 0.90 (CI-95%: 0.89-0.92). For NGS, the detection rate was 0.77 (95% CI: 0.61-0.87; I2: 94%). Furthermore, the detection rate increased to 0.97 (95% CI: 0.94-0.99; I2: 95%) when NGS was performed after MLPA. We observe a low risk of bias but with very low certainty in the estimations. CONCLUSIONS: In patients with clinical suspicion of DMD, the MLPA test is very good but with very low certainty. However, in these patients with a negative MLPA, adding the NGS test would allow improve the detection rate. Therefore, the sequential use of these tests could be considered in patients who persist in the clinical suspicion.