Muscular glycogenosis
RSS feedGenotype-phenotype correlations in Pompe disease
A review of the literature revealed 115 cases of infantile (42) or late-onset (73) Pompe disease. Genetic analysis of associated GAA variants showed that : the presence of at least one splice variant was found in 96.6% of cases in late-onset forms ; in 71.4% of cases in infantile forms, there was no splice variant; … [Read more]
Gene therapy improves cardiomyopathy in Danon disease: results of an initial phase I trial
In the USA, a Phase I trial in Danon’s disease assessed the safety and efficacy of a gene therapy, RP-A501, consisting of intravenous injection of a recombinant serotype 9 adeno-associated virus containing the LAMP2B transgene over a follow-up period of 2 to 4.5 years. It included seven male patients (two aged 11 and 14 and … [Read more]
Danon disease: a single-centre Chinese retrospective study of 29 paediatric cases
Between July 2014 and December 2023, 21 boys and 8 girls undergoing follow-up at a paediatric cardiology centre in Shanghai were genetically diagnosed with Danon disease, at around 7 years of age for the boys and slightly later (9.4 years on average) for the girls. Nearly half had a family history of this very rare … [Read more]
Overview of the main myopathies that can begin in the over-50s
A French review has set out to provide an overview of the most emblematic late-onset myopathies (LOMs), those which may appear after the age of 50, and to identify the pitfalls to be avoided and the important steps in the diagnostic approach to these pathologies. Based on an assessment of the literature and medical data … [Read more]
Cardiovascular damage in McArdle’s disease
A review of the literature on cardiovascular damage in McArdle disease, or type V glycogenosis, shows that : 21 cases have been described, including 18 men, most often with coronary artery disease (17 cases), or, more rarely, hypertrophic cardiomyopathy. The authors of this review therefore recommend regular cardiac monitoring in McArdle’s disease. Cardiac comorbidities … [Read more]
Overview of neuromuscular diseases
After a brief reminder of the structure of the motor unit and the various modes of inheritance, this document provides short descriptions of the neuromuscular diseases that are part of our scope at AFM-Téléthon, as well as how to manage and treat them. For each group of diseases, as well as in the motor unit … [Read more]
A large French series of cases of muscular amylopectinosis
French clinicians and biologists report the clinical, histopathological and genetic data of patients in whom the diagnosis of amylopectinosis (also known as Andersen’s syndrome or type IV glycogenosis) was confirmed by molecular biology in the context of a confirmed and very early muscle deficit: 10 patients from eight families were included in the study, all … [Read more]
McArdle’s disease: how to adapt to exercise intolerance
An international online survey gathered the experience of 162 people with McArdle’s disease, with a median age of 52: the median age at diagnosis was 28 and at onset of symptoms 5 years; the median fatigue score reflected moderate to severe fatigue; the median disability acceptance score reflected moderate acceptance; the greatest difficulties experienced were … [Read more]
Sugar intake and exercise in McArdle disease
A Dutch-Danish team conducted a randomised, double-blind, placebo-controlled crossover study involving nine patients with McArdle disease, or type V glycogenosis: ingestion, 10 minutes before the start of a 60-minute submaximal exercise test on an ergocycle, of a sweetened sports drink (in this case Faxe Kondi©) did result in a significant improvement in exercise tolerance, as … [Read more]
Recommendations for the diagnosis and management of Danon disease
Danon disease is a muscular glycogenosis with a preferential cardiac tropism and is due to deleterious anomalies in the LAMP2 gene encoding a lysosomal enzyme: Skeletal muscle damage is possible, as is damage to the central nervous system (intellectual deficit) and/or retinopathy, International specialists in this rare disease have drawn up a consensus best practice … [Read more]
