Study coordinator: Jocelyn LAPORTE
Congenital hypotonia, myopathies, and peripheral neuropathies are rare and severe genetic muscle diseases affecting both children and adults across all populations. They have a significant impact on patient survival and quality of life, as well as on their families and public health systems. These conditions can be life-threatening and are generally associated with progressive muscle weakness, respiratory difficulties, and delays in motor and/or intellectual development. They can be grouped into subcategories defined by various structural and/or molecular abnormalities in the affected tissues.
Currently, around 600 causative genes have been identified. However, a significant number of patients still lack a genetic diagnosis, suggesting the involvement of as-yet-unknown genetic causes.
As part of this project, our team has already analyzed the genetic data of 700 patients with myopathies and their families, leading to the discovery of new disease genes. To continue this research, DNA from additional undiagnosed families has been sequenced through the France Genomic Medicine Plan 2025 (PFMG2025). Using computational and functional analyses in laboratory models, we aim to identify and validate new genetic causes of these diseases.
Obtaining a genetic diagnosis is essential for providing appropriate genetic counseling to families, improving patient care, and enabling access to clinical trials and potential therapies.