Congenital myopathy is a group of diseases caused by genetic mutations that result in problems with the tone and contraction of skeletal muscles.
Different types of congenital myopathies are caused by mutations in different genes, and can be inherited in various patterns, including autosomal recessive, autosomal dominant, and X-linked recessive. Some types of congenital myopathies are caused by defects or deficiencies of myotubularin, a protein thought to promote normal muscle development; inherited in an X-linked recessive pattern.
Usually, diagnosis begins with evaluation of the patient’s personal and family history, and proceeds with physical and neurological examinations that test reflexes and strength. Specialized tests can be used to examine the muscles, such as a muscle biopsy (examined for physical signs), and electromyography (EMG) to measure a muscle’s activity. Genetics tests are available for many of the genetic mutations underlying various myopathies.
There are no known cures for congenital myopathies. Supportive treatments, such as physical, occupational and speech therapies, nutritional support, and assisted breathing, may help to alleviate the symptoms and support functioning, mobility and strength.