Blog Archives

McArdle disease is a nonlysosomal glycogenosis that classically manifests with exercise-induced pain from childhood. Fixed weakness may occur from the fifth decade and is typically mild and located around the shoulder girdle. Here, the authors describe a 61-year-old man with exercise-induced pain from a young age and a 3-year history of weight loss and an … [Read more]

 Recent studies show that patients with myotonic dystrophy (DM) have an increased risk of specific malignancies, but estimates of absolute cancer risk accounting for competing events are lacking. Using the Swedish Patient Registry, the authors identified 1,081 patients with an inpatient and/or outpatient diagnosis of DM between 1987 and 2007. Date and cause of death … [Read more]

In this article, the authors studied a two-generation family presenting with conditions that included progressive permanent weakness, myopathic myopathy, exercise-induced contracture before normokalaemic periodic paralysis or, if localized to the tibial anterior muscle group, transient compartment-like syndrome (painful acute oedema with neuronal compression and drop foot). 23Na and 1H magnetic resonance imaging displayed myoplasmic sodium … [Read more]

In this study, the authors aimed to develop a classification for neuromuscular disease patients in each of the three motor function domains (D1: standing and transfers; D2: axial and proximal function; D3: distal function). A draft classification was developed by a study group and then improved by qualitative validation studies (according to the Delphi method) … [Read more]

The adaptor protein Numb has been implicated in the switch between cell proliferation and differentiation made by satellite cells during muscle repair. Using two genetic approaches to ablate Numb, the authors determined that, in its absence, muscle regeneration in response to injury was impaired. Single myofiber cultures demonstrated a lack of satellite cell proliferation in … [Read more]

Dutch biotechnology company Prosensa and multinational pharmaceutical company GlaxoSmithKline (GSK) are seeking 3-18 year-old participants with Duchenne muscular dystrophy (DMD) for a large-scale study to determine the usual progression of Duchenne muscular dystrophy and aid clinical trials. Prosensa is the developer of drisapersen and other experimental compounds to treat DMD, and GSK has been involved … [Read more]

Duchenne muscular dystrophy (DMD) is one of the most common hereditary degenerative neuromuscular diseases, caused by mutations in the dystrophin gene. Two studies describing growth patterns and psychomotor development in DMD are presented. In the first retrospective study, the authors describe growth and psychomotor development of patients with DMD and to detect a possible genotype-phenotype … [Read more]

Myotonic dystrophy is the most common adult muscle dystrophy. In view of emerging therapies, which use animal models as a proof of principle, the development of reliable outcome measures for in vivo longitudinal study of mouse skeletal muscle function is becoming crucial. To satisfy this need, the authors have developed a device to measure ankle … [Read more]

In patients with myotonic dystrophy type 1 (DM1), the mechanisms underlying sudden cardiac death, which occurs in up to 1/3 of patients, are unclear. To study the potential role of Brugada syndrome in ventricular tachyarrhythmias and sudden death in DM1 patients, 914 adult patients included in the DM1 Heart Registry during 2000-2009 were screened for … [Read more]

Core myopathies (CM), the main non-dystrophic myopathies in childhood, remain genetically unexplained in many cases. Heart disease is not considered part of the typical CM spectrum. No congenital heart defect has been reported, and childhood-onset cardiomyopathy has been documented in only two CM families with homozygous mutations of the TTN gene. TTN encodes titin, a … [Read more]