- Experience. Mayo Clinic doctors have experience evaluating and treating nearly 2,000 people a year with neuromuscular diseases, including congenital myopathies.
- Team approach. Mayo Clinic doctors trained in nervous system conditions (neurology), neuromuscular diseases, hereditary conditions (medical genetics), heart conditions (cardiology), lung conditions (pulmonology), musculoskeletal conditions (orthopedic surgery), physical therapy, eye conditions (ophthalmology), and other areas work together to provide the most appropriate treatment for you.
- Research. Mayo Clinic researchers study the genetics, causes, and evaluation and treatment of congenital myopathies.
Mayo Clinic doctors trained in nervous system conditions (neurologists) and other doctors treat all types of congenital myopathies.
Congenital myopathies include:
- Central core disease. This condition causes muscle weakness and developmental problems. Some patients may develop significant reaction to general anesthesia (malignant hyperthermia).
- Centronuclear myopathies. These rare conditions cause muscle weakness in the face, arms, legs and eye muscles, and breathing problems.
- Congenital fiber type disproportion myopathy. This condition has an appearance of small fibers on muscle tissue and causes muscle weakness in the face, neck, arms, legs and trunk.
- Nemaline myopathy. Nemaline myopathy is one of the more common congenital myopathies and causes muscle weakness in the face, neck, arms and legs, and sometimes scoliosis. It may also cause breathing and feeding problems.
- Multiminicore disease. This condition has several subtypes and often causes severe muscle weakness in the arms and legs, and scoliosis.
- Myotubular myopathy. This rare condition, also called centronuclear myopathy, which occurs only in males, causes muscle weakness, floppiness and breathing problems.
- Other myopathies. Other rare myopathies include autophagic vacuolar myopathy, cap disease, congenital myopathy with arrest of myogenesis, hyaline body myopathy, myosin storage myopathy and zebra body myopathy.
Mayo Clinic in Rochester, Minn., ranks #1 for neurology and neurosurgery in the U.S. News & World Report Best Hospitals rankings. Mayo Clinic in Rochester, Minn., is ranked among the Best Hospitals for orthopedics and for rehabilitation by U.S. News & World Report.
April 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.