The Centre de référence des maladies neuromusculaires of the Institute of Myology conducted a single-centre observational study of 142 adult patients with congenital myopathy followed up between 1996 and 2019, for a median duration of 8 years.
- Congenital myopathies with cores linked to the RYR1 gene and centronuclear myopathies linked to the DNM2 gene were the most frequent.
- The disease appeared prenatally in 5.8% of patients, at birth in 28.1%, during childhood in 47.9%, in adolescence in 3.3% and in adulthood in 14.9%.
- Scoliosis was reported in 25.3% of patients. Early surgical arthrodesis was performed in almost a third of these patients.
- Cardiac problems, generally mild, were observed in 5.6% of patients. These were either conduction and rhythm disorders, or cardiomyopathy and contractile disorders.
- A mild restrictive respiratory syndrome was observed in 71.8% of patients, a moderate syndrome in 18.8% and a severe syndrome in 4.7%. Four patients (4.7%) underwent tracheostomy.
- Half the patients walked independently, 36.7% required minimal assistance, 12.3% needed unilateral or bilateral walking aids, and 15.7% were in wheelchairs.
- Twenty patients were unable to walk, some having never acquired the ability to walk and others having lost it.
