A Case of Adult Onset Nemaline Myopathy with Selective Respiratory Muscle Weakness

J Korean Neurol Assoc > Volume 18(5); 2000 > Article

Journal of the Korean Neurological Association 2000;18(5): 672-676.

선택적인 호흡근 마비로 발병한 성인형 Nemaline 근병증 1예

박소강*, 김지현 주민경 이종윤 김서현 김승민 선우일남

연세대학교 의과대학 신경과학교실,동국대학교 의과대학 신경과학교실*

A Case of Adult Onset Nemaline Myopathy with Selective Respiratory Muscle Weakness

So Gang Park, M.D.*, Jee Huen Kim, M.D., Min Kyung Chu, M.D., Jong Reun Lee, M.D., Seo Hyun Kim, M.D., Seung Min Kim, M.D., Il Nam Sunwoo, M.D.,

Department of Neurology, College of Medicine, Yonsei Univiersity Department of Neurology, College of Medicine, Dongguk University*

Abstract

Nemaline myopathies, originally reported as a type of congenital myopathy, are clinically and genetically heteroge-nous diseases. Clinically, nemalin myopathies can be divided into infantile, juvenile and adult forms, and genetically, into autosomal dominant and recessive. There are several reports on nemalin myopathy in Korea, all juvenile forms, but not adult or infant form. In contrast to juvenile form, the adult congential nemalin myopathy is characterized by rather selective acute or subacute respiratory dysfunction in adult age with sporadic or autosomal recessive inheritance. Here, we report the first case of an adult form of nemalin myopathy, whose symptoms were rapidly developed at the age of 32. Therefore, nemalin myopathy can be included in the differential diagnosis for the unexplainable respiratory failure in adult age. J Korean Neurol Assoc 18(5):672~675, 2000 Key Words : Adult, Myopathies/Nemalin, Respiratory Insufficiency