Médicaments spécifiques et perspectives thérapeutiques

In neuromuscular diseases, currently available treatments are mainly symptomatic. A replacement therapy, in pomp disease, is available on the market since January 2006 and integrated into the panel of enzymatic substitutive therapy of lysosomal storage diseases. Therapeutic innovation goes through gene therapy leading to transcription of a more functionnal protein during the Duchenne myopathy and Myotonic Dystrophy Steinert. However the low number of patients, the slow evolution of disease, the lack of validated criteria for assessment are factors limiting the development of these therapies.