A Case of Congenital Fiber Type Disproportion Associated with External Ophthalmoplegia.
- Author:
Jae Wook JO
1
;
Han Jin CHO
;
Dae Seong KIM
;
Dae Soo JUNG
;
Kyu Hyun PARK
;
Chang Hun LEE
Author Information
1. Department of Neurology, Pusan National University School of Medicine, Busan, Korea. dskim@pusan.ac.kr
- Publication Type:Case Report
- Keywords:
Congenital nonprogressive myopathy;
Congenital fiber type disproportion;
External ophthalmoplegia
- MeSH:
Child;
Extremities;
Female;
Humans;
Muscle Hypotonia;
Muscles;
Muscular Diseases;
Myopathies, Structural, Congenital*;
Ophthalmoplegia*;
Parturition;
Pathology
- From:Journal of the Korean Neurological Association
2004;22(6):683-685
- CountryRepublic of Korea
- Language:Korean
-
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.
