A myopathy is a disorder of the muscles that usually results in weakness. Congenital myopathy refers to a group of muscle disorders that appear at birth or in infancy. The disorder makes breathing or feeding difficult for infants. Babies may also lag behind other babies in normal development and growth aspects such as turning over or sitting up.
To diagnose a congenital myopathy, a neurologist will perform a detailed physical exam as well as tests to determine the cause of weakness. If a myopathy is suspected, possible tests include a blood test for a muscle enzyme called creatine kinase, an electromyogram (EMG) to evaluate the electrical activity of the muscle, a muscle biopsy, and genetic testing.
As of now, only one of the types of congenital myopathies has an effective treatment. Other than central core disease no known cures for any of the other types have been found. Supportive treatment may include orthopedic treatment, and physical, occupational and speech therapy.
When breathing difficulties are severe, and particularly if there is also a problem with feeding and swallowing, infants may die of respiratory failure or complications such as pneumonia. Sometimes muscle weakness can lead to skeletal problems, such as scoliosis, reduced mobility of joints, or hip problems. The heart muscle is rarely involved.
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