Myology research highlights

Cardiomyopathy is a leading cause of morbidity and mortality in boys with Duchenne muscular dystrophy (DMD). The authors of the present study have recently shown in a 12-month double-blind randomised controlled trial that adding eplerenone to background medical therapy was cardioprotective in this population. Here, they evaluated the safety and efficacy of longer-term eplerenone therapy … [Read more]

The Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency adopted a positive opinion for Spinraza™, a first step towards market authorisation. The European Medicines Agency (EMA) Committee on Medicinal Products for Human Use (CHMP) issued a positive opinion on the Marketing Authorisation Application (MAA) in Europe for Spinraza™ (or nusinersen) … [Read more]

  Congenital muscular dystrophies display a wide phenotypic and genetic heterogeneity. The combination of clinical, biochemical, and molecular genetic findings must be considered to obtain the precise diagnosis and provide appropriate genetic counselling. Here, the authors report five individuals from four families presenting with variable clinical features including muscular dystrophy with a reduction in dystroglycan … [Read more]

  BAG3 (Bcl-2 associated athanogene-3) mutations have been described in rare cases of rapidly progressive myofibrillar myopathies. Symptoms begin in the first decade with axial involvement and contractures and are associated with cardiac and respiratory impairment in the second decade. Axonal neuropathy has been documented, but usually not as a key clinical feature. Here, the … [Read more]

  Electrical impedance myography (EIM) is a non-invasive electrophysiological technique that characterises muscle properties through bioimpedance. This study compared EIM measurements to function, strength, and disease severity in 41 patients with congenital muscular dystrophy (CMD). They had either collagen 6 related disorders (COL6-RD) (n = 21) or laminin alpha 2-related disorders (LAMA2-RD) (n = 20) … [Read more]

  Duchenne muscular dystrophy (DMD) is a lethal genetic disorder caused by an absence of the dystrophin protein in bodywide muscles, including the heart. Cardiomyopathy is a leading cause of death in DMD. Exon skipping via synthetic phosphorodiamidate morpholino oligomers (PMOs) represents one of the most promising therapeutic options, yet PMOs have shown very little … [Read more]

  Charcot-Marie-Tooth disease (CMT) type 1A is the most common form of CMT 1 and one of the autosomal dominant demyelinating hereditary motor and sensory neuropathies (HMSN). Cranial nerves may be frequently subclinically affected in CMT disease. However manifest clinical signs of cranial nerve involvement are rare. This case comprises neurological, ophthalmological, internal medicine and … [Read more]

  Patients with ANO5 mutations may present not only limb-girdle muscular dystrophy type 2L or adult-onset Miyoshi-type myopathy but also with asymptomatic hyperCKemia, exercise intolerance, or rhabdomyolysis. In this study, data from 38 patients in France with ANO5 mutations with and without muscle weakness on first examination were compared. The authors found that creatine kinase … [Read more]

  Spinal muscular atrophy (SMA) is a neurodegenerative disorder showing a broad clinical spectrum and no cure to date. To design and select evaluation criteria for the potential assessment of drugs currently being developed, the patient’s perspective is critical. A survey, aiming to obtain a view on the current clinical state of European Type II … [Read more]

Recent translational research developments in Spinal Muscular Atrophy (SMA), outcome measure design and demands from regulatory authorities require that clinical outcome assessments are ‘fit for purpose’. An international collaboration (SMA REACH UK, Italian SMA Network and PNCRN USA) undertook an iterative process to address discontinuity in the recorded performance of the Hammersmith Functional Motor Scale … [Read more]