Open AccessA Case of Congenital Neuromuscular Disease with Uniform Type 1 Fiber
Author(s) -
Sang-Jun Na,
Seong-Woong Kang,
Kee Oog Lee,
Ki Young Lee,
Tai Seung Kim,
Young Chul Choi
Publication year - 2004
Publication title -
yonsei medical journal/yonsei medical journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.702
H-Index - 63
eISSN - 1976-2437
pISSN - 0513-5796
DOI - 10.3349/ymj.2004.45.1.150
Subject(s) - congenital myopathy , deltoid curve , medicine , proximal muscle weakness , muscle biopsy , ptosis , neuromuscular disease , myopathy , deltoid muscle , fiber type , fiber , anatomy , biopsy , surgery , disease , skeletal muscle , chemistry , organic chemistry
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.