MYOBASE LE PORTAIL DOCUMENTAIRE SUR LES MALADIES NEUROMUSCULAIRES

McArdle’s disease (or type V glycogenosis) is the most common metabolic myopathy. It is characterized by exercise intolerance with myalgia, cramps, muscle weakness. It is often accompanied by rhabdomyolysis, hyperCKemia and myoglobinuria, which can lead to acute renal failure.   A European register of muscular glycogenosis The EUROMAC register was set up with the support … [Read more]

Cet article First results from the EUROMAC register est apparu en premier sur Institut de Myologie.

Myosinopathies, or myosin overload myopathies, are a recently described group of genetically determined neuromuscular disorders related to congenital myopathies. Among them, the autosomal dominant form initially described by Nigel Laing in the context of distal myopathies is due to mutations in the MYH7 gene. The latter encodes a heavy chain of myosin expressed in the … [Read more]

Cet article Muscle imaging specifies the phenotype in myosinopathy linked to MYH7 gene est apparu en premier sur Institut de Myologie.

Online at the beginning of December 2020 on the website of the French National Authority for Health (Haute Autorité de Santé or HAS), the good practice recommendation on tracheostomy in the management of ventilatory dependence in patients with slowly progressive neuromuscular diseases. It aims to help decision-making and to improve and harmonize care practices. The … [Read more]

Cet article Tracheostomy and neuromuscular diseases: HAS publishes recommendations for clinical practice est apparu en premier sur Institut de Myologie.