A Case of Congenital Neuromuscular Disease with Uniform Type 1 Fiber.
10.3349/ymj.2004.45.1.150
- Author:
Sang Jun NA
1
;
Seong Woong KANG
;
Kee Oog LEE
;
Kyung Yul LEE
;
Tai Seung KIM
;
Young Chul CHOI
Author Information
1. Department of Neurology, Brain Korea 21 Project for Medical Science, Yonsei University College of Medicine, Seoul, Korea. ycchoi@yumc.yonsei.ac.kr
- Publication Type:Case Report
- Keywords:
Congenital neuromuscular disease with uniform type 1 fiber (CNMDU1);
congenital myopathy
- MeSH:
Biopsy;
Child;
Developmental Disabilities/*pathology;
Female;
Human;
Muscle Fibers, Slow-Twitch/*pathology;
Muscle, Skeletal/*pathology;
Neuromuscular Diseases/congenital/*pathology
- From:Yonsei Medical Journal
2004;45(1):150-152
- CountryRepublic of Korea
- Language:English
-
Abstract:
Congenital neuromuscular disease with uniform type 1 fiber (CNMDU1) is a rare but distinct form of nonprogressive, congenital myopathy. CMNDU1 is characterized by a type 1 muscle fiber content of more than 99%. This condition has only been previously described in a few reports. The authors report an 11-year-old girl who exhibited delayed developmental milestones, proximal muscle weakness, and bilateral ptosis. Her serum creatine kinase level was normal but an electromyographic study showed myopathic changes. A biopsy specimen from the left deltoid muscle revealed a uniformity of type 1 fibers (greater than 99%) with a moderate variation in fiber size. This is the first case of CNMDU1 reported in Korea.
