Congenital myopathies

Congenital myopathies are rare diseases due to genetic causes affecting the muscle. They are characterised by muscular weakness, generally appearing birth or in the first few months: the muscles lack tone, leading to motor and respiratory difficulties, and the joints tend to stiffen. This muscular hypotonia is due to abnormalities in the structure of the muscle fibres, detectable under the microscope, which affect the proper functioning of the muscle fibres, but do not lead to their destruction.

Clinical trial ongoing at the Institute:

• ARMGO – CL-EPI-001: An Observational Study in Participants with Ryanodine Receptor 1-Related Myopathies (RYR1-RM) to Determine Optimal Endpoint Measurements