Myology research highlights

Hereditary motor and sensory neuropathy with proximal dominance (HMSN-P) has been reported as a rare type of autosomal dominant adult-onset Charcot-Marie-Tooth disease. HMSN-P has been described only in Japanese descendants since 1997, and the causative gene has not been found. In this genetic and observational analysis study, the authors aimed to identify the genetic cause … [Read more]

 Spinal Muscular Atrophy (SMA) presents challenges in (i) monitoring disease activity and predicting progression, (ii) designing trials that allow rapid assessment of candidate therapies, and (iii) understanding molecular causes and consequences of the disease. Validated biomarkers of SMA motor and non-motor function would offer utility in addressing these challenges. The objectives of this study were … [Read more]

The loss of dystrophin or its associated proteins results in the development of muscle wasting frequently associated with a cardiomyopathy. Contractile cardiac tissue is injured and replaced by fibrous tissue or fatty infiltrates, leading to progressive decrease of the contractile force and finally to end-stage heart failure. At the time symptoms appear, restoration of a … [Read more]

Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by genetic defects affecting neuromuscular transmission and leading to muscle weakness accentuated by exertion. Three different aspects have been investigated by members of the national French CMS Network: the difficulties in making a proper diagnosis; the course and long-term prognosis; and the response to … [Read more]

In this study, an international team has published the results of a decade’s worth of work: they have developed a new mouse model with the same genetic alterations that cause human facioscapulohumeral muscular dystrophy (FSHD). This model can be used to evaluate and optimise future therapeutic strategies for FSHD. The molecular underpinnings of types 1 … [Read more]

Complement activation at the neuromuscular junction is a primary cause of acetylcholine receptor loss and failure of neuromuscular transmission in myasthenia gravis (MG). Eculizumab, a humanized monoclonal antibody, blocks the formation of terminal complement complex by specifically preventing the enzymatic cleavage of C5. This was a randomized, double-blind, placebo-controlled, crossover trial in 14 patients with … [Read more]

Myotonic dystrophy type 1 (DM1) is caused by DM protein kinase (DMPK) transcripts containing an expanded (CUG)n repeat. Antisense oligonucleotide (AON)-mediated suppression of these mutant RNAs is considered a promising therapeutic strategy for this severe disorder. The authors of the present study have previously identified a 2′-O-methyl (2′-OMe) phosphorothioate (PT)-modified (CAG)7 oligo (PS58), which selectively … [Read more]

In 2004 a Cochrane review and AAN practice parameter concluded that prednisone 0.75 mg/kg/d is of short-term efficacy in Duchenne muscular dystrophy (DMD). Subsequent efforts to standardize care for DMD found wide variation in corticosteroid use. In this study, the authors surveyed physicians who follow patients with DMD: (1) Clinics in the TREAT-NMD (Translational Research … [Read more]

Individuals with dystrophinopathy lose upper extremity strength in proximal muscles followed by those more distal. Current upper extremity evaluation tools fail to fully capture changes in upper extremity strength and function across the disease spectrum, as they tend to focus solely on distal ability. The Kinect by Microsoft is a gaming interface that can gather … [Read more]

Cellular therapy is a potential approach to improve the regenerative capacity of damaged or diseased skeletal muscle. However, its clinical use has often been limited by impaired donor cell survival, proliferation and differentiation following transplantation. Additionally, functional improvements after transplantation are all-too-often negligible. Because the host microenvironment plays an important role in the fate of … [Read more]