Blog Archives

Ventricular assist devices (VADs) have been placed as destination therapy in adults for over twenty years but have only recently been considered an option in a subset of paediatric patients. A 2016 report from the Pediatric Interagency Registry for Mechanical Circulatory Support (PediMACS) revealed only eight paediatric patients implanted as destination therapy. Here, the authors … [Read more]

  This study aimed to study the diagnostic value of targeted next-generation sequencing (NGS) in limb-girdle muscular dystrophies (LGMDs), and investigate the mutational spectrum of Chinese LGMD patients. Targeted NGS covering 420 genes in 180 patients who were consecutively suspected of LGMDs and underwent muscle biopsies from January 2013 to May 2015. The association between … [Read more]

  Limb Girdle Muscular Dystrophies type 2I (LGMD2l), a recessive autosomal muscular dystrophy, is caused by mutations in the Fukutin Related Protein (FKRP) gene. It has been proposed that FKRP, a ribitol-5-phosphate transferase, is a participant in α-dystroglycan (αDG) glycosylation, which is important to ensure the cell/matrix anchor of muscle fibers. A LGMD2l knock-in mouse … [Read more]

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]