선택적인 호흡근 마비로 발병한 성인형 Nemaline 근병증 1예

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.