Autosomal Dominant Distal Muscular Dystrophy : Report of A Family

J Korean Neurol Assoc > Volume 8(2); 1990 > Article

Journal of the Korean Neurological Association 1990;8(2): 349-352.

체염색체 우성 말단 근이양증 1가족 예

박영관, 선우일남 , 지제근

연세대학교 신경과. 서울대학교 신경과.

Autosomal Dominant Distal Muscular Dystrophy : Report of A Family

Young Kwan Park, M.D. Il Nam Sunwoo, M.D. Je Geun Chi, M.D.

Dep. Of Neurology, Yonsei University, Wonju College of Medicine Dep. Of Neurology, Yonsei University, College of Medicine Dep. Of Pathology, College of Medicine, Seoul National Umiversity

Abstract

Ihree cases in a family had progressive muscle weakness and atropy affecting distal hands at first and later involvement of proximal arms and legs. The disorder seemed to be inherited through an autosomal dominant trait with symptom onset in early adulthood, and with slow progression. In one of these patients, the EMG revealed myopathic processes in the muscles of upper extremity and tibialis anterior & gastrocnemius muscles. Biopsy of the left rnedial gastrocnemius muscle showed variation in fiber size, regenerating fibers with vaculoes and mild inflammatory changes. However serum creatine kinase was within normal range. EMG study in others showed similar myopathic processes. The severity and widespreadness of symptoms and EMG abnormalities seemed to be related to the duration of the disease.