Myology research highlights

Accelerometric analysis of gait abnormalities in golden retriever muscular dystrophy (GRMD) dogs is of limited sensitivity, and produces highly complex data. The use of discriminant analysis may enable simpler and more sensitive evaluation of treatment benefits in this important preclinical model. Here, the authors describe a new method of 3D accelerometric gait analysis using linear … [Read more]

A team supported by the AFM-Telethon has provided proof-of-concept for the efficacy of a dual gene therapy approach in a mouse model OPMD. Oculopharyngeal muscular dystrophy (OPMD) is due to an abnormal increase in the number of repetitions of a GCG triplet in the PABPN1 gene that disrupts the functioning of the muscle cell. Usually, … [Read more]

  Distal hereditary motor neuropathy is a heterogeneous group of inherited neuropathies characterised by distal limb muscle weakness and atrophy. Although at least 15 genes have been implicated in distal hereditary motor neuropathy, the genetic causes remain elusive in many families. To identify an additional causal gene for distal hereditary motor neuropathy, the authors performed … [Read more]

  Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant, late-onset muscle disorder characterized by ptosis, swallowing difficulties, proximal limb weakness and nuclear aggregates in skeletal muscles. OPMD is caused by a trinucleotide repeat expansion in the PABPN1 gene that results in an N-terminal expanded polyalanine tract in polyA-binding protein nuclear 1 (PABPN1). Here, the authors … [Read more]

Congenital myopathies constitute a very heterogeneous set of neuromuscular pathologies. Clinically characterised by very early onset (at birth or in the first months of life), and little or not progressive muscular deficiency, these myopathies are distinguished by more or less specific lesions, visible by microscopy on muscle fragments . Hereditarily, they can be transmitted by … [Read more]

Anotacmin-5, also called TMEM16, is a transmembrane protein encoded by the ANO5 gene. Dominant mutations of this gene are responsible for a developmental anomaly (gnathodiaphyseal dysplasia), whereas recessive mutations are responsible for muscular degeneration of varying severity. This can be summarised as a simple elevation of creatine phosphokinase (CPK) or lead to much more deficient … [Read more]

  This study aimed to determine the prevalence and clinical and genetic characteristics of patients with X-linked Charcot-Marie-Tooth disease (CMT) due to mutations in noncoding regions of the gap junction β-1 gene (GJB1). Mutations were identified by bidirectional Sanger sequence analysis of the 595 bases of the upstream promoter region, and 25 bases of the … [Read more]

  Sporadic inclusion body myositis, a variant of inflammatory myopathy, has features distinct from polymyositis/dermatomyositis. The disease affects men more than women, most commonly after age 50. Clinical features include weakness of the quadriceps, finger flexors, ankle dorsiflexors, and dysphagia. The distribution of weakness is similar to Becker muscular dystrophy, where the authors have previously … [Read more]

  Autosomal-recessive proximal spinal muscular atrophies (SMA) are disorders characterised by an ubiquitous deficiency of the survival of motor neuron protein that leads to a multisystemic disorder, which mostly affects alpha motor neurons. Disease progression is clinically associated with failure to thrive or weight loss, mainly caused by chewing and swallowing difficulties. Although pancreatic involvement … [Read more]

  This study aimed to establish the prevalence and clinical associations of anti-HMG-CoA-reductase (anti-HMGCR) in a large UK cohort of 381 patients with juvenile myositis. Anti-HMGCR autoantibodies were detected in 4 patients (1%). These children had no or minimal rash and significant muscle disease. Muscle biopsies were considered distinctive, with widespread variation in fiber size, … [Read more]