Myology research highlights

Myalgia, fatigue, and exercise intolerance are cause for referral to a neurologist. However, the diagnostic value of history, neurological examination, and ancillary investigations in patients with these symptoms is unknown. This study provides a sound footing for deciding which ancillary investigations should be conducted. A prospective observational study of the diagnostic approach in 187 patients … [Read more]

Congenital muscular dystrophy (CMD) comprises a rare group of genetic muscle diseases that present at birth or early during infancy. Two common subtypes of CMD are collagen VI-related muscular dystrophy (COL6-RD) and laminin alpha 2-related dystrophy (LAMA2-RD). Traditional outcome measures in CMD include gross motor and mobility assessments, yet significant motor declines underscore the need … [Read more]

McArdle disease is a glycogen storage disease caused by mutations in the PYGM gene encoding myophosphorylase. It manifests classically with childhood-onset exercise-induced pain. Here, the authors report the characteristics of 2 unrelated patients with a new homozygous mutation of the PYGM gene. In both patients, symptoms had developed progressively in the 2 preceding years, and … [Read more]

Although technically possible, few clinical laboratories across the world have implemented non-invasive prenatal diagnosis (NIPD) for selected single-gene disorders, mostly owing to the elevated costs incurred. Having previously proven that NIPD for X-linked disorders can be feasibly implemented in clinical practice, the authors of the present study have now developed a test for the NIPD … [Read more]

Although functional rating scales are being used increasingly as primary outcome measures in spinal muscular atrophy (SMA), sensitive and objective assessment of early-stage disease progression and drug efficacy remain challenging. This explorative study was conducted to determine the feasibility of a new tool designed to measure active upper limb movement in 18 ambulant SMA type … [Read more]

This study describes 3 patients identified at 2 different institutions with Brown-Vialetto-Van Laere syndrome. Each patient was initially diagnosed with a neuroimmune disorder for a period of a few weeks to a few months. In each case, genetic analysis revealed mutations in one of the riboflavin transporters, confirming Brown-Vialetto-Van Laere syndrome. It is likely that … [Read more]

Calcium (Ca2+ ) is a physiological key factor, and the precise modulation of free cytosolic Ca2+ levels regulates multiple cellular functions. Store-operated Ca2+ entry (SOCE) is a major mechanism controlling Ca2+ homeostasis, and is mediated by the concerted activity of the Ca2+ sensor STIM1 and the Ca2+ channel ORAI1. Dominant gain-of-function mutations in STIM1 or … [Read more]

Nemaline myopathy (NM) is a common form of congenital nondystrophic skeletal muscle disease characterised by muscular weakness of proximal dominance, hypotonia, and respiratory insufficiency but typically not cardiac dysfunction. Wide variations in severity have been reported. Intranuclear rod myopathy is a subtype of NM in which rod-like bodies are seen in the nucleus, and it … [Read more]

Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant adult-onset disease characterized by progressive ptosis, dysphagia, and proximal limb weakness. The genetic cause is an expanded (GCN)n mutation in the PABPN1 gene encoding for the polyadenylate-binding protein nuclear 1. Here, the authors hypothesised a potential correlation between the size of the (GCN)n expansion and the severity … [Read more]

The national muscular dystrophy wards database of Japan lists 118 long-term Duchenne muscular dystrophy (DMD) patients who were at least 40 years old as of October 1, 2013. To elucidate the clinical features of DMD patients aged 40 years and older, gene analysis and muscle biopsy findings, as well as medical condition information were obtained. … [Read more]