Myology research highlights

Although functional rating scales are being used increasingly as primary outcome measures in spinal muscular atrophy (SMA), sensitive and objective assessment of early-stage disease progression and drug efficacy remain challenging. This explorative study was conducted to determine the feasibility of a new tool designed to measure active upper limb movement in 18 ambulant SMA type … [Read more]

This study describes 3 patients identified at 2 different institutions with Brown-Vialetto-Van Laere syndrome. Each patient was initially diagnosed with a neuroimmune disorder for a period of a few weeks to a few months. In each case, genetic analysis revealed mutations in one of the riboflavin transporters, confirming Brown-Vialetto-Van Laere syndrome. It is likely that … [Read more]

Calcium (Ca2+ ) is a physiological key factor, and the precise modulation of free cytosolic Ca2+ levels regulates multiple cellular functions. Store-operated Ca2+ entry (SOCE) is a major mechanism controlling Ca2+ homeostasis, and is mediated by the concerted activity of the Ca2+ sensor STIM1 and the Ca2+ channel ORAI1. Dominant gain-of-function mutations in STIM1 or … [Read more]

Nemaline myopathy (NM) is a common form of congenital nondystrophic skeletal muscle disease characterised by muscular weakness of proximal dominance, hypotonia, and respiratory insufficiency but typically not cardiac dysfunction. Wide variations in severity have been reported. Intranuclear rod myopathy is a subtype of NM in which rod-like bodies are seen in the nucleus, and it … [Read more]

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]