Myotonia Dystrophica: A Case Report / 대한정형외과학회잡지

ABSTRACT

Myotonia dystrophica(Synonym Myotonia atrophica, Dystrophia myotonia, Steinert's disease) is a autosomal dominant hereditary multisystemic disorder involving several organs besides skeletal muscle, and commonly called with myotonia congenita, paramyotonia congenita as myotonia. Although most cases are of adult onset, where a mother has the disease, neonatal dystrophia myotonia can occur in her offspring. The main feature is a steadily progressive muscle dystrophy, complicated by myotonia, which is a failure of muscles to relax normally after a forceful contraction. Steinert in 1909 was the first to report the finding of atrophic testes and baldness in patients with myotonia dystrophica, and the other clinical feature of myotonia dystrophica were reported by many authors after that time. We are reporting a case of myotonia dystrophica, which showing familial history with brief review of literature.