Myology research highlights

Idiopathic myopathies are a group of acquired muscular diseases considered as autoimmune disorders. Characteristic histopathologic features allow the classification into myositis (polymyositis, dermatomyositis, and inclusion body myositis) and immune-mediated necrotising myopathies. But overlapping histological features may be observed between different idiopathic myopathies and even between acquired and genetic muscular diseases. In the group of idiopathic … [Read more]

Laminopathies, caused by mutations in the LMNA gene encoding the nuclear envelope proteins lamins A and C, represent a diverse group of diseases that include Emery-Dreifuss muscular dystrophy (EDMD), dilated cardiomyopathy (DCM), limb-girdle muscular dystrophy, and Hutchison-Gilford progeria syndrome. Most LMNA mutations affect skeletal and cardiac muscle by mechanisms that remain incompletely understood. Loss of … [Read more]

Glucocorticoid (GC) therapy in Duchenne muscular dystrophy (DMD) has altered disease progression, necessitating contemporary natural history studies. In this study, the Cooperative Neuromuscular Research Group (CINRG) DMD Natural History Study (DMD-NHS) enrolled 340 DMD males, aged 2-28 years to carry out a comprehensive battery of measures. A novel composite functional “milestone” scale showed clinically meaningful … [Read more]

Of the seven autosomal dominant genetically distinct forms of LGMD so far described, in only four the causative gene has been identified (LGMD1A-1D). Herein the authors describe clinical, histopathological and muscle MRI features of a large Italo-Spanish kindred with LGMD1F presenting proximal-limb and axial muscle weakness. Complete clinical data were obtained and the progression of … [Read more]

Dysferlinopathy refers to a group of autosomal recessive muscular dystrophies due to mutations in the dysferlin gene causing deficiency of a membrane-bound protein crucially involved in plasma membrane repair. The condition is characterized by marked clinical heterogeneity, the different phenotypes/modes of presentation being unrelated to the genotype. For unknown reasons, patients are often remarkably active … [Read more]

Spinal muscular atrophy (SMA) is caused by loss of the Survival Motor Neuron 1 (SMN1) gene, resulting in reduced SMN protein. Humans possess the additional SMN2 gene (or genes) that does produce low level of full length SMN, but cannot adequately compensate for loss of SMN1 due to aberrant splicing. The majority of SMN2 gene … [Read more]

In a small percentage of patients with amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, a mutation in the SOD1 gene has been found to cause a familial or inherited form of the disease.  This genetic link to ALS makes individuals that bear this mutation, ideal candidates to test exploratory new therapies that … [Read more]

At the 16th annual meeting of the American Society of Gene & Cell Therapy, the Muscular Dystrophy Association (MDA) and the Association Française Contre Les Myopathies (AFM) hosted a joint symposium on advancing gene therapy for neuromuscular diseases. As noted by one of the symposium speakers, Jeffrey Chamberlain, finding effective methods of gene delivery to … [Read more]

Lithium has neuroprotective effects in cell and animal models of amyotrophic lateral sclerosis (ALS), and a small pilot study in patients with ALS showed a significant effect of lithium on survival. The lithium carbonate in amyotrophic lateral sclerosis (LiCALS) trial is a randomised, double-blind, placebo-controlled trial of oral lithium taken daily for 18 months in … [Read more]

Limb-girdle muscular dystrophies (LGMD) are genetically and clinically heterogeneous conditions. In this study, the authors have investigated a large family with autosomal dominant transmission pattern, previously classified as LGMD1F and mapped to chromosome 7q32. Affected members are characterised by muscle weakness affecting earlier the pelvic girdle and the ileopsoas muscles. The whole exome of four … [Read more]