Blog Archives

Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant adult-onset disease characterized by progressive ptosis, dysphagia, and proximal limb weakness. The genetic cause is an expanded (GCN)n mutation in the PABPN1 gene encoding for the polyadenylate-binding protein nuclear 1. Here, the authors hypothesised a potential correlation between the size of the (GCN)n expansion and the severity … [Read more]

The national muscular dystrophy wards database of Japan lists 118 long-term Duchenne muscular dystrophy (DMD) patients who were at least 40 years old as of October 1, 2013. To elucidate the clinical features of DMD patients aged 40 years and older, gene analysis and muscle biopsy findings, as well as medical condition information were obtained. … [Read more]

For the duration of the trial, Spinraza™ reduced the risk of death or the need for assisted ventilation in infants with type 1 SMA by 47%. In a press release published on January 13, 2017, Biogen Laboratories and IONIS Pharmaceuticals, presented the final results of the ENDEAR trial that terminated in August 2016, at the … [Read more]

Cori-Forbes disease, or type III glycogenosis, is due to abnormalities in the GDE gene encoding the glycogen-disrupting enzyme. Hepatic involvement is common and accounts for most symptoms in childhood, whereas muscle involvement occurs more randomly and particularly with a late-onset, including in adulthood. In an article published in September 2016, a French team described the … [Read more]

This study aimed to survey female carriers for Duchenne and Becker muscular dystrophy to identify barriers to carrier testing and the impact of carrier risk knowledge on cardiac and reproductive health management. Women who have or had biological sons with Duchenne or Becker muscular dystrophy were surveyed and enrolled in the US DuchenneConnect patient registry, … [Read more]

  Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are the two most common adult muscular dystrophies and have progressive and often disabling manifestations. Higher levels of medication adherence lead to better health outcomes, especially important to patients with DM and FSHD because of their multisystem manifestations and complexity of care. However, medication adherence has … [Read more]

Polyglucosans myopathies are rare muscle diseases characterised by an accumulation of glycogen. Inherited and transmitted in an autosomal recessive mode, they are classified as metabolic myopathies and more precisely, with glycogenosis. In the most frequent case, type IV glycogenosis, a mutation of the GBE1 gene (encoding glycogen branching enzyme), results in a variable deposit of … [Read more]

Myositis is a group of acquired neuromuscular diseases associated with immune system dysfunction. Generally, the production of autoantibodies generally confirms the diagnosis. Among the myositis are inflammatory myopathies including polymyositis, dermatomyositis, inclusive myositis and a more recently described entity, autoimmune necrotizing myopathy. Unlike the former, histologically, autoimmune necrotizing myopathy is not inflammatory. It is often … [Read more]