Muscular glycogenosis
RSS feedMcArdle’s disease: what impact on patients’ social participation?
The EUROMAC registry brings together information from 269 people with McArdle’s disease from eight European countries, including France, as well as the United States. A study based on the responses of 73% of these patients sheds new light on their disease in real life: 67% of respondents said they were working, 29% had had to … [Read more]
Low-carb ketogenic diet and McArdle’s disease: results of an international survey
An international survey was conducted among 183 people with McArdle’s disease in 18 countries, including France, to gather their experiences with the low-carbohydrate, high-fat ketogenic diet. The results show that : a third of participants have tried this diet, of these, almost 90% reported positive effects on McArdle’s disease symptoms (exertional intolerance, muscle pain and … [Read more]
A new glycogen overload myopathy
French researchers report the discovery of a gene responsible for a new myopathy beginning in childhood and accompanied by an accumulation of glycogen in the muscles: the clinical picture was relatively benign and did not progress very far, the index case, with no family history, was 26 years old and had been in diagnostic limbo … [Read more]
Clinical biomarkers of gait quality and fall risk in late-onset Pompe disease
Compared with 20 healthy controls, the gait pattern and locomotion performance of 18 people with late-onset Pompe disease were found to be significantly impaired. Hip abductor strength is the main determinant of locomotor performance, gait stability and pelvic stability. Hip flexor strength is critical for knee and hip kinetics during gait. The duration of unipodal … [Read more]
Sugar before exercise, but not after the second breath in McArdle’s disease
A Dutch-Danish team conducted a randomised, double-blind, placebo-controlled crossover study involving nine patients with McArdle’s 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]
The French experience of intolerance to ERT in certain patients with Pompe disease
Hypersensitivity phenomena of various kinds occur in certain patients with late-onset Pompe disease receiving venous enzyme replacement therapy (ERT). The French consortium in charge of this myopathy, which includes clinicians from the Institut de Myologie, has compiled documented cases of intolerance to ERT using data from the French Pompe disease register: just over 10% of … [Read more]
Pompe disease in children: nerve damage impairs functional motor prognosis
A French team carried out a retrospective study of 29 children with infantile or juvenile forms of Pompe disease. Ten children with the infantile form died at a median age of 21 months. Of the remainder, four had the juvenile form, 15 the infantile form, four of whom were started on enzyme replacement therapy (ERT) … [Read more]
Conclusions of a long-term follow-up study in infantile Pompe disease
In an article published in May 2023, a French team retrospectively analysed the outcome of 64 patients with a classic infantile form of Pompe disease diagnosed between 2004 and 2020: 50 patients (78%) received enzyme replacement therapy with alglucosidase alfa, 10 of whom had to stop it because it was ineffective. 37 patients (58%) died … [Read more]
Initial results on the safety of home enzyme replacement therapy in Pompe disease
A Dutch survey of people with Pompe disease has assessed the safety of administering enzyme replacement therapy at home, a strategy that has been offered in the Netherlands since 2008. The results were published in May 2023: the study analysed data from 116 patients (including 82 with the adult form) receiving a home infusion of … [Read more]
The French Pompe disease registry turns 18
Created in 2004, the French registry for Pompe disease collects prospective clinical and biological data on people with this disease. In 2022, thanks to the collaboration of the 31 reference centres for rare neuromuscular and metabolic diseases, the register includes 210 patients with the adult form of the disease. One hundred and seventy-seven received enzyme … [Read more]
