The congenital myopathies are a group of genetic disorders that cause weakness at the time of birth. Common symptoms include weakness, respiratory distress, contractures, and difficulty swallowing at birth.
The clinical course of the different congenital myopathies can vary from person to person. Unlike the muscular dystrophies, the natural history of the congenital myopathies is typically non-progressive or very slowly progressive.
Multiple gene defects have been identified as causes of congenital myopathy. Genetic testing can be done to assess for some of these disorders. Others can be diagnosed through muscle biopsy. Blood tests and electrodiagnostic testing are also sometimes used in the evaluation of the congenital myopathies.
Some of the more common congenital myopathies include: nemaline myopathy, myotubular myopathy, central core disease, congenital myofiber-type disproportion, hyaline body myopathy, centronuclear myopathy, and multi-minicore disease. Collagen VI disorders (Bethlem and Ullrich myopathies), congenital muscular dystrophies, and other disorders causing weakness at birth are also included in this group.
A multidisciplinary approach is needed in the treatment of congenital myopathies. At the Center for Genetic Muscle Disorders, a neurologist will assess the patient, order diagnostic testing, and coordinate care with other specialists and care providers. Rehabilitation specialists will be present to evaluate the patient and recommend exercises and equipment to maximize functional ability, independence, and safety. Genetic counselors are available in our clinic to discuss the risks and benefits of genetic testing for the patient and family members, explain the patterns of inheritance, and discuss family planning options. Social, mental health and financial needs will be addressed by social workers and other members of the medical team. If needed, other physicians, such as pulmonologists, orthopedic surgeons, and cardiologists, will be consulted to provide expert advice on management of extra-muscular symptoms and complications.