Blog Archives

French researchers have investigated the biological mechanisms involved in dermatomyositis (DM) by comparing muscle stem cells from patients and healthy subjects. They were particularly interested in the proliferative capacities of these cells and the levels of interferons, the signalling proteins involved in the immune response. The results of this work show that : the stem … [Read more]

Two American teams, one from Boston and the other from New York, have compared their points of view on the thorny question of whether or not to treat so-called “presymptomatic” subjects carrying 4 or more copies of the SMN2 gene. This question is all the more important as newborn screening for SMA is very advanced … [Read more]

Based on previous work with mdx mice, the model animal for Duchenne muscular dystrophy (DMD), British researchers have developed a test for humans based on the startle response to several stimuli: 11 children aged between 7 and 12 years with DMD and 9 healthy volunteers participated in the validation study, The test included two types … [Read more]

Africa is, relatively speaking, a kind of terra incognita for neuromuscular diseases in general and Charcot-Marie-Tooth disease (CMT) in particular. Researchers from Mali have recently published a review of the literature on the prevalence of the different forms of the disease on that continent, and another article focusing on CMTX alone. In the latter, transmission … [Read more]

American researchers analysed the prevalence and typology of myositis in the United States over the period 1986-2011 from a federal patient registry. They were particularly interested in the geographical distribution of cases among the 1,247 patients who agreed to participate in the survey: the study cohort consisted of 464 cases of dermatomyositis, 358 cases of … [Read more]

Necrotizing autoimmune myopathy (NAM) is a relatively common form of myositis and is diagnosed based on the positivity of autoantibodies to HMGCR and/or SRP protein. It is frequently associated with exposure, more or less prolonged, to statins. American researchers have demonstrated a significantly higher prevalence of the disease in native American populations: an initial epidemiological … [Read more]

Although long-term corticosteroid therapy is a commonly accepted standard of care in Duchenne muscular dystrophy (DMD), its modalities are still debated. An essai international multicentrique attempted to answer this question by comparing several types of corticosteroids in a population of 196 children. Participants were randomly assigned to one of three groups: daily prednisone (0.75 mg/kg/day), … [Read more]

Adult polyglucosan inclusion disease (APBD) and Lafora’s disease are two neurological diseases with an overload of abnormal glycogen (polyglucosan). In the absence of a branching enzyme, as in APBD, glycogen does not branch and elongation of the glycogen chain by glycogen synthase results in the accumulation of insoluble polyglucosan. By inhibiting the expression of the … [Read more]