체염색체 우성 말단 근이양증 1가족 예

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.