A Family of Distal Myopathy with Rimmed Vacuoles

J Korean Neurol Assoc > Volume 13(3); 1995 > Article

Journal of the Korean Neurological Association 1995;13(3): 665-670.

Rimmed Vacuole을 보이는 말단근병증 1가족 3례

문준식, 선우일남, 김기환, 김태승

연세대학교 신경과. 병리학교실

A Family of Distal Myopathy with Rimmed Vacuoles

Joon Shik Moon, M.D., Il Nam Sunwoo, M.D., Ki Whan Kim, M.D., Tai Seung Kim, M.D.

Department of Neurology, Pathology, College of Medicine, Yonseii University

Abstract

Distal myopathy with rimmed vacuoles is a rare muscle disease and, so far as we know, it has not been reported in Korea as yet. This disorder is known to be inherited as autosomal recessive trait and to have no specific treatment. Hereby, we report 3 patients of distal myopathy with rimmed vacuoles in a family. The clinical characteristics of these patients were slowly progressive symmetrical muscle weakness and wasting of all 4 extremities, worse in distal legs. The pretibial muscles were involved more markedly than the calf muscles. Serum muscle enzymes were increased. The prominent EMG findings were myopathic changes, but reduced recruitment was occasionally found in some distal muscles The muscle biopsies of right biceps brachii muscle were performed in two patients, which showed the characteristic rimmed vacuoles by light microscope. Membranous whorls and randomly oriented intracytoplasmic filaments were found by electron microscope. The severity of pathological abnormalities were related to the clinical status of the patient. One had been treated with steroid(prednisolone) for several years but with no improvement.