Overview

Congenital myopathies are rare muscle diseases mostly present at birth (congenital) that result from genetic defects. There are many different types of congenital myopathies, but most share common features, including lack of muscle tone and weakness.

Other signs and symptoms of some congenital myopathies include feeding and breathing difficulties, as well as skeletal conditions, such as curvature of the spine (scoliosis), weak bones (osteopenia) or hip problems. Signs and symptoms of congenital myopathies may not be apparent until later in infancy or childhood.

There are no known cures for congenital myopathies. However, the recent advances in gene therapy can provide treatment for congenital myopathies. The supportive treatments, including physical, occupational and speech therapies, nutritional support, and assisted breathing, may be helpful. Genetic counseling may help assess the risk of congenital myopathies in future pregnancies.