Blog Archives

  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]

  Immune mediated necrotizing myopathies (IMNM) may be associated with either anti-SRP or anti-HMGCR antibodies (Abs) and the titre of these Abs is correlated with the disease activity. This study investigated if anti-SRP and anti-HMGCR Abs could be involved in muscle damage. Muscle biopsies of patients were analysed for atrophy and regeneration, by measuring the … [Read more]