Myology research highlights
RSS feedAn experimental neuropsychological test for DMD
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]
A very late-onset form of SMA-LED
Spinal muscular atrophy with lower extremity dominance (SMA-LED) is an ultra-rare distal spinal muscular atrophy initially described in children. Two distinct genes, DYNC1H1 and BICD2, cause SMA-LED1 and SMA-LED2 respectively. Australian clinicians report a highly original case due to the very late onset of the disease: the patient had been suffering from a waddling gait … [Read more]
Two Malian contributions to a better understanding of CMT in Africa
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]
Study confirms uneven geographical distribution of myositis cases in the USA
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]
Native Americans at higher risk of statin-related autoimmune necrotizing myopathy
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]
Searching for the optimal corticosteroid therapy in DMD
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]
A therapeutic approach for polyglucosan or glycogen overload diseases
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]
Almost one third of BMD patients have cognitive or neuropsychiatric disorders
An Italian team conducted a review of the literature published after 1995 on cognitive, behavioural and psychosocial disorders in people with Becker muscular dystrophy (BMD). The meta-analysis included 11 publications, included five focused on central nervous system disorders in BMD and five multicentre or registry studies. Across all studies, the distribution of intelligence quotient (IQ) … [Read more]
New roles for CaVβs subunits in the regulation of gene expression and cellular homeostasis
. Voltage-gated calcium channels (CaVs or VGCCs) regulate intracellular calcium homeostasis. . Their activation by electrical activity leads to changes in intracellular Ca2+ levels regulating, depending on the cell type, various processes such as contraction, secretion and gene expression. . While the CaVα1 subunit is the essential component of the calcium channel, the auxiliary β, … [Read more]
Launch of the 1st European gene therapy clinical trial in LGMD linked to FKRP
The first European gene therapy trial in limb-girdle muscular dystrophy linked to the FKRP gene (LGMD2I/R9) has just started. This is a multicentre phase 1-2 study evaluating the safety, pharmacodynamics, efficacy and immunogenicity of GNT0006, an adeno-associated virus (AAV) vector carrying the human FKRP transgene. This study will consist of two phases: an open-label dose … [Read more]
