Blog Archives

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are thought to belong to a spectrum of neurodegenerative disorders with sharedclinicopathological and genetic features. ALS is a fatal disease in which motor neurons in the brain and spinal cord degenerate. As the illness progresses, patients lose the ability to walk, talk and breathe. FTD is a … [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]

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]

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]

In this study, the authors aimed to obtain minimum point prevalence rates for the skeletal muscle channelopathies and to evaluate the frequency distribution of mutations associated with these disorders. Analysis of demographic, clinical, electrophysiologic, and genetic data of all patients was assessed at their national specialist channelopathy service. Only patients living in the United Kingdom … [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]

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]

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]

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]