Myology research highlights

This study describes a slowly progressive myopathy in seven unrelated adult patients with storage of polyglucosan in muscle fibers. Genetic investigation revealed homozygous or compound heterozygous deleterious variants in the glycogenin-1 gene (GYG1). Most patients showed depletion of glycogenin-1 in skeletal muscle whereas one showed presence of glycogenin-1 lacking the C-terminal that normally binds glycogen … [Read more]

Centronuclear myopathies are congenital muscle disorders characterized by type I myofibre predominance and an increased number of muscle fibres with nuclear centralization. The severe neonatal X-linked form is due to mutations in MTM1, autosomal recessive centronuclear myopathy with neonatal or childhood onset results from mutations in BIN1 (amphiphysin 2), and dominant cases were previously associated … [Read more]

Facioscapulohumeral muscular dystrophy (FSHD: MIM#158900) is a common myopathy with marked but largely unexplained clinical inter- and intra-familial variability. FSHD is caused by contractions of the D4Z4 repeat array on chromosome 4 to 1-10 units (FSHD1), or by mutations in the D4Z4-binding chromatin modifier SMCHD1 (FSHD2). Both situations lead to a partial opening of the … [Read more]

In the translational process of developing innovative therapies for DMD (Duchenne muscular dystrophy), the last pre-clinical validation step is often carried out in the most relevant animal model of this human disease namely the GRMD (Golden retriever muscular dystrophy) dog. GRMD dogs mimic the human disease, DMD, in many aspects including the inter-individual heterogeneity. This … [Read more]

The 6-minute walk test has been recently chosen as the primary outcome measure in international multicenter clinical trials in Duchenne muscular dystrophy ambulant patients. The aim of the study was to assess the spectrum of changes at 3 years in the individual measures, their correlation with steroid treatment, age and 6 minute walk test values … [Read more]

Muscular dystrophies (MD) are a group of heterogeneous genetic disorders characterized by progressive striated muscle wasting and degeneration. Although the genetic basis for many of these disorders has been identified, the exact mechanism for disease pathogenesis remains unclear. The presence of oxidative stress (OS) is known to contribute to the pathophysiology and severity of the … [Read more]

The objectives of this study were (1) to develop a novel magnetization transfer ratio (MTR) MRI assay of the proximal sciatic nerve (SN), which is inaccessible via current tools for assessing peripheral nerves, and (2) to evaluate the resulting MTR values as a potential biomarker of myelin content changes in patients with Charcot-Marie-Tooth (CMT) diseases. … [Read more]

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a motor neuron disease caused by mutations in the IGHMBP2 gene, without a cure. Here, the authors demonstrate that neural stem cells (NSCs) from human-induced pluripotent stem cells (iPSCs) have therapeutic potential in the context of SMARD1. They show that upon transplantation NSCs can appropriately … [Read more]

Firdapse (amifampridine phosphate) a leading drug from Catalyst Pharmaceutical Partners Inc, has demonstrated superior results compared to placebo for treating symptoms associated with the rare autoimmune disorder Lambert-Eaton Myasthenic Syndrome (LEMS). LEMS is a neuromuscular disease causing progressive muscle weakness, and it is often associated with cancer. All patients in the phase III randomized “withdrawal” … [Read more]

McArdle disease is caused by an inherited deficiency of the enzyme myophosphorylase, resulting in exercise intolerance from childhood and acute crises of early fatigue and contractures. In severe cases, these manifestations can be accompanied by rhabdomyolysis, myoglobinuria, and fatal renal failure. Diagnosis of McArdle disease is based on clinical diagnostic tests, together with an absence … [Read more]