children s health issues
Myotonia Congenita
Diagnosis of Myotonia Congenita
Electromyography (EMG) Muscle biopsy Genetic testing The diagnosis of myotonia congenita is suspected from the child’s characteristic appearance, inability to relax the grip of the hand rapidly after closing the hand, and prolonged contraction after the doctor taps a muscle. Electromyography and Nerve Conduction Studies (a test in which electrical impulses from muscles are recorded) is needed to confirm the diagnosis. A biopsy of a muscle is sometimes done. Genetic Screening Before Pregnancy can be done to identify mutations in the gene that causes both forms. 