Myology research highlights
RSS feedLithium is safe but of no benefit to ALS patients
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]
Identification of Transportin 3 as the causative gene for LGMD1F
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]
Autosomal recessive mutations in desmin cause LGMD2
Autosomal recessive limb girdle muscular dystrophy (LGMD2) is a heterogeneous group of myopathies characterised by progressive muscle weakness involving proximal muscles of the shoulder and pelvic girdles including at least 17 different genetic entities. Additional loci have yet to be identified as there are families that are unlinked to any of the known loci. The … [Read more]
Mutations in BICD2 cause autosomal dominant SMA
A new gene, bicaudal D homolog 2 (Drosophila) (BICD2) has been identified to cause both dominant congenital spinal muscular atrophy (DCSMA) and hereditary spastic paraplegia (HSP). Spinal muscular atrophy (SMA) is a heterogeneous group of neuromuscular disorders caused by degeneration of lower motor neurons. Although functional loss of SMN1 is associated with autosomal-recessive childhood SMA, … [Read more]
SMA VALIANT Trial: Valproic acid in ambulatory adults with SMA
An open label trial suggested that valproic acid (VPA) improved strength in adults with spinal muscular atrophy (SMA). Herein, the authors report a 12 month, double blind, crossover study of VPA in 33 ambulatory SMA adults aged 20-55 years. After baseline assessments subjects were randomised to receive VPA (10-20 mg/kg/daily) or placebo. At 6 months, … [Read more]
Do mutations in RYR1 cause rhabdomyolysis and/or exertional myalgia?
Mutations in the skeletal muscle ryanodine receptor (RYR1) gene are a common cause of neuromuscular disease, ranging from various congenital myopathies to the malignant hyperthermia (MH) susceptibility trait without associated weakness. The RYR1 gene was sequenced in 39 unrelated families with rhabdomyolysis and/or exertional myalgia, frequent presentations in the neuromuscular clinic that often remain unexplained … [Read more]
Assessment of disease activity in muscular dystrophies by non-invasive imaging
Muscular dystrophies are a class of disorders that cause progressive muscle wasting. A major hurdle for discovering treatments for the muscular dystrophies is a lack of reliable assays to monitor disease progression in animal models. We have developed a novel mouse model to assess disease activity noninvasively in mice with muscular dystrophies. These mice express … [Read more]
Autoantibodies for the diagnosis of autoimmune myopathies
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]
Seed capital fund: an incentive to treat rare diseases
The AFM-Telethon and FNA, a fund managed by CDC Entreprises, a unit of the Public investment bank, have launched the first seed capital fund dedicated to innovative biotherapies and rare diseases. With the Caisse des Dépôts Enterprises (a management company in charge of promoting equity capital financing of growing French SMEs in the technological sector … [Read more]
“State-of-the-heart” of cardiac laminopathies
The LMNA gene encodes the nuclear A-type lamins. LMNA mutations are associated with more than 10 clinical entities and represent one of the first causes of inherited dilated cardiomyopathy. LMNA-dilated cardiomyopathy is associated with conduction disease (DCM-CD) and is a severe and aggressive form of DCM. However, pathogenesis remains largely unknown and no specific treatment … [Read more]
