-
-
J Korean Neurol Assoc. 1985;3(2):254-266.
- 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
- 근긴장성 이영양증 16례에 대한 임상적 고찰
-
홍승봉, 박성호, 명호진
-
서울대학교 신경과.
- 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.
Keywords :
- 초록
-
