Blog Archives

  α-Dystroglycanopathies are a group of muscular dystrophies characterized by α-DG hypoglycosylation and reduced extracellular ligand-binding affinity. Among other genes involved in the α-DG glycosylation process, fukutin related protein (FKRP) gene mutations generate a wide range of pathologies from mild limb girdle muscular dystrophy 2I (LGMD2I), severe congenital muscular dystrophy 1C (MDC1C), to Walker-Warburg Syndrome … [Read more]

  This cross-sectional study that included an online survey and a prospective, 1-year longitudinal investigation using a phone survey aimed to define the natural history of X-linked myotubular myopathy (MTM). Consistent with existing knowledge, the authors found that MTM is a disorder associated with extensive morbidities, including wheelchair (86.7% nonambulant) and ventilator (75% requiring >16 … [Read more]

Mutations in RYR1 give rise to diverse skeletal muscle phenotypes, ranging from classical central core disease to susceptibility to malignant hyperthermia. Next-generation sequencing has recently shown that RYR1 is implicated in a wide variety of additional myopathies, including centronuclear myopathy. In this article, an international consortium of researchers, including experts from the Institute of Myology, … [Read more]

  Current enzyme replacement therapy with recombinant human (rh)GAA has demonstrated efficacy in subjects with late-onset Pompe disease. However, long-term effects of rhGAA on pulmonary function have not been observed, likely related to inefficient delivery of rhGAA to skeletal muscle lysosomes and associated deficits in the central nervous system. To address this limitation, reveglucosidase alfa, … [Read more]

Pompe disease is a lysosomal disorder due to the absence of an enzyme involved in glycogen metabolism. Genetically determined, it is an inherited autosomal recessive disorder and is characterised by myopathy overload and almost always, respiratory failure, amongst other symptoms. Infantile-onset, with a very early onset and poor prognosis (Pompe Disease), can be distinguished from … [Read more]

  Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common hereditary muscular disorders. Currently FSHD has no known effective treatment and detailed data on the natural history are lacking. Determination of the efficacy of a given therapeutic approach might be difficult in FSHD given the slow and highly variable disease progression. Magnetic resonance imaging … [Read more]

Mutations in GFPT1 (glutamine-fructose-6-phosphate transaminase 1), a gene encoding an enzyme involved in glycosylation of ubiquitous proteins, cause a limb-girdle congenital myasthenic syndrome (LG-CMS) with tubular aggregates (TAs) characterized predominantly by affection of the proximal skeletal muscles and presence of highly organized and remodeled sarcoplasmic tubules in patients’ muscle biopsies. The authors report here the … [Read more]

The efficacy of enzyme replacement therapy (ERT) in patients at an advanced stage of Pompe disease has only been addressed in a few studies. The aim of this study was to assess the long term effects of ERT in a cohort of patients with severe Pompe disease. The authors identified patients from the French Pompe … [Read more]

In myotonic dystrophy type 1, the association between mutation size (CTG expansion) and the severity of cardiac involvement is controversial. A group of french experts supported by AFM-Telethon, involving researchers and clinicians from the Institute, selected 855 patients with myotonic dystrophy type 1 (women, 51%; median age, 37 years), with genetic testing performed at the … [Read more]