New myotubular myopathy classification


The aim of a new classification for the myotubular myopathy (MTM) is to help having a better understanding of the severity and the burden of the different phenotypes of the disease. MTM is an X-linked congenital myopathy due to mutations in the MTM1 gene. MTM is classified as a rare and severe disease (incidence of 1/50.000 males). A prospective and longitudinal natural history study (NatHis-MTM) is conducted in Europe, USA and Canada in order to prepare upcoming clinical trials. MTM patients are currently classified into 3 groups (severe, moderate and mild) based on the clinical presentations described in case reports, but not on specific criteria.


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