Myology research highlights

Charcot-Marie-Tooth disease (CMT) comprises a clinically and genetically heterogeneous group of peripheral neuropathies characterized by progressive distal muscle weakness and atrophy, foot deformities and distal sensory loss. Following the analysis of two consanguineous families affected by a medium to late-onset recessive form of intermediate CMT, the authors of the present study identified overlapping regions of … [Read more]

The US Food and Drug Administration (FDA) has granted breakthrough therapy designation to GlaxoSmithKline’s drisapersen for the potential treatment of patients with Duchenne muscular dystrophy. The agency has concluded that the drug qualifies as breakthrough based on a Phase II study of drisapersen, which is licensed from Prosensa of the Netherlands. GSK is looking at … [Read more]

Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy disease, is a rare neurodegenerative disorder presenting with insidious onset of weakness in bulbar and limb muscles. Information regarding long-term clinical and functional progression has been limited, especially for the Taiwanese population. This study aimed to investigate early diagnosis and long-term prognosis of SBMA. The … [Read more]

The ability to control pre-mRNA splicing with small molecules could facilitate the development of therapeutics or cell-based circuits that control gene function. Myotonic dystrophy type 1 is caused by the dysregulation of alternative pre-mRNA splicing due to sequestration of muscleblind-like 1 protein (MBNL1) by expanded, non-coding r(CUG) repeats (r(CUG)(exp)). Here the authors report two small … [Read more]

Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is an autosomal recessive disorder caused by mutations in the laminin-α2 gene (OMIM: 607855). Currently, no treatment other than palliative care exists for this disease. In previous work from the authors, genetic interventions in the Lama2Dy-w mouse model for MDC1A demonstrated that limited regeneration and uncontrolled apoptosis are … [Read more]

In the present study, the authors assessed the presence, frequency and pattern of MRI abnormalities in non-dystrophic myotonia patients. They reviewed T1-weighted and STIR (short-tau-inversion-recovery) 3T MRI sequences of lower limb muscles at thigh and calf level in 21 patients with genetically confirmed non-dystrophic myotonia: 11 with CLCN1 mutations and 10 with SCN4A mutations, and … [Read more]

This study aimed to identify patients with GFPT1-related limb-girdle myasthenia and analyze phenotypic consequences of the mutations. Genetic analysis, histochemical, immunoblot, and ultrastructural studies and in vitro electrophysiologic analysis of neuromuscular transmission were carried out. The authors identified 16 recessive mutations in GFPT1 in 11 patients, of which 12 are novel. Ten patients had slowly … [Read more]

Glycogen storage diseases are important causes of myopathy and cardiomyopathy. This study describes ten patients from eight families with childhood or juvenile onset of myopathy, eight of whom also had rapidly progressive cardiomyopathy requiring heart transplant in four. The patients were homozygous or compound heterozygous for missense or truncating mutations in the ubiquitin ligase RBCK1 … [Read more]

Central Core Disease is a myopathy often arising from mutations in the RYR1 gene, encoding the sarcoplasmic reticulum calcium release channel RyR1. No treatment is currently available for this disease. In this study, the authors examined the pathological situation of a severely affected child with two recessive mutations, which resulted in a massive reduction in … [Read more]

The onset and symptoms of the myotonic dystrophies are diverse, complicating their diagnoses and limiting a comprehensive approach to their clinical care. This report analyzes the diagnostic delay (time from onset of first symptom to diagnosis) in a large sample of myotonic dystrophy (DM) patients enrolled in the US National Registry [679 DM type 1 … [Read more]