Congenital myopathies are rare muscle diseases 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. Supportive treatments include physical, occupational and speech therapies, nutritional support, and assisted breathing, if needed.

Genetic counseling may help assess the risk of congenital myopathies in future pregnancies.

Apr. 30, 2014

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