A Case of Congenital Fiber Type Disproportion 
Associated with External Ophthalmoplegia

J Korean Neurol Assoc > Volume 22(6); 2004 > Article

Journal of the Korean Neurological Association 2004;22(6): 683-685.

외안근마비를 동반한 선천성근섬유형불균형증 1예

조재욱, 조한진 김대성 정대수 박규현 이창훈

부산대학교 의과대학 신경과학교실, 병리학교실*

A Case of Congenital Fiber Type Disproportion Associated with External Ophthalmoplegia

Jae-Wook Jo

Department of Neurology and Pathology*, Pusan National University School of Medicine, Busan, Korea

Abstract

Congenital fiber type disproportion (CFTD) is a form of congenital myopathy characterized by histologic findings of the smallness of type 1 fiber and type 1 fiber predominance. It is usually associated with hypotonia and motor weakness of the limb muscles at birth or the neonatal period. We report a 6-year-old girl with limb weakness and ophthalmoplegia, whose muscle pathology showed the classic pattern of CFTD without any other abnormality. Key Words: Congenital nonprogressive myopathy, Congenital fiber type disproportion, External ophthalmoplegia