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
- Wang CH, et al. Consensus statement on standard care for congenital myopathies. Journal of Child Neurology. 2012;27:363.
- Bodamer OA, et al. Congenital myopathies. http://www.uptodate.com/home. Accessed Dec. 1, 2013.
- Dubowitz V, et al. Muscle Biopsy: A Practical Approach. 4th ed. Philadelphia, Pa.: Elsevier; 2013. http://www.clinicalkey.com. Accessed Dec. 1, 2013.
- Congenital myopathy information page. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/myopathy_congenital/myopathy_congenital.htm. Accessed Dec. 1, 2013.
- Riggin EA. Decision Support System. Mayo Clinic, Rochester, Minn. Dec. 11, 2013.
You Are ... The Campaign for Mayo Clinic
Mayo Clinic is a not-for-profit organization. Make a difference today.