MYOBASE LE PORTAIL DOCUMENTAIRE SUR LES MALADIES NEUROMUSCULAIRES

Data from the literature have established the cause of SMA: 95% of people have a homozygous loss of SMN1 (no copy of the SMN1 gene) and 5% a heterozygous loss of SMN1 (absence of the SMN1 gene on one of the chromosomes and mutation on the other).  A retrospective study was carried out in Brazil on … [Read more]

Cet article The most frequent abnormalities of the SMN1 gene would concern exons 3 or 6 of the SMN1 gene in Brazil est apparu en premier sur Institut de Myologie.

Muscle imaging technologies have become more sophisticated over the years. Among them, magnetic resonance imaging (MRI) plays a role not only in establishing the diagnosis of a good number of acquired or hereditary neuromuscular diseases but also in the evolutionary monitoring of the patient, whether in an individual setting or in a therapeutic protocol. The … [Read more]

Cet article The global quantification of muscle in MRI is more interesting than an analytical approach by muscle to judge the evolution of many neuromuscular pathologies est apparu en premier sur Institut de Myologie.

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.