A Clinical Study on 16 Cases of Myotonic Dystrophy

J Korean Neurol Assoc > Volume 3(2); 1985 > Article

Journal of the Korean Neurological Association 1985;3(2): 254-266.

근긴장성 이영양증 16례에 대한 임상적 고찰

홍승봉, 박성호, 명호진

서울대학교 신경과.

A Clinical Study on 16 Cases of Myotonic Dystrophy

Seung-Bong Hong, M.D.,Ho-Jin Myung, M.D., Sung-Ho Park, M.D.

Department of Neurology, Seoul National University

Abstract

Myotonic dystrophy is a familial multisystem disorder transmitted by autosomal dominant pattern, which is the commonest of adult-onset muscular dystrophies. We analyzed clinically 16 patients of myotonic dystrophy who had admitted at Seoul National University Hospital during past 8.5 years (from Jan. 1977 to July 1985). Sex ratio is 7:1 (male; 14, female;2) and the average age is 29.6 (17-49). Chief complaints, at admission, are relaxation difficulty (88%), extremity weakness (69%), speech disturbance (63%), frontal baldness (38%), and impotence(31%), etc. in that order of frequency. Physical examination showed myotonia and typical myopathic appearnace in all cases. EMG and muscle biopsy revealed typical features of myotonic dystrophy. Associated other abnormalities are EKG abnormality (81%), eye involvement (68.7%), abnormal skull X-ray (46.7%), DM (18.8%), increased serum gonadotropin level (90%), abnormal semen composition (80%), decreased pulmonary function (100%) and mild brain atrophy, etc. Diphenylhydantoin was given and physiotherapy with genetic counselling was performed. Seven of sixteen patients showed slight decrement of myotonia.