Central Core Disease: A Case Report.
- Author:
Ji Hoon KIM
1
;
Young S PARK
;
Sung Hye PARK
;
Je G CHI
Author Information
1. Department of Pathology, Seoul National University College of Medicine, Seoul, Korea. shparknp@plaza.snu.ac.kr
- Publication Type:Case Report
- Keywords:
Myopathy,Central Core;
Muscle, Skeletal;
Ultrastructure
- MeSH:
Adult;
Biopsy;
Electromyography;
Female;
Humans;
Muscle Weakness;
Muscle, Skeletal;
Muscular Diseases;
Myopathy, Central Core*;
Neural Conduction;
Parturition;
Posture;
Walking;
Weight-Bearing
- From:Korean Journal of Pathology
2004;38(1):68-71
- CountryRepublic of Korea
- Language:English
-
Abstract:
Central core disease is a rare autosomal dominantly inherited non-progressive congenital myopathy, which is pathologically characterized by the formation of a "core". We report a 28-year-old female with non-progressive muscle weakness, who had a hypotonic posture at birth. The developmental milestones were delayed with her first walking at 18 months of age. She could not run or walk a long distance and weight-bearing tasks were almost impossible. None of her family members showed motor symptoms. An investigation of the electromyography and nerve conduction velocity showed non-specific results. A gastrocnemius muscle biopsy revealed central cores in approximately 70% of myofibers with a type 1 myofiber predominance and deranged sarcolemmal structures. To the best of our knowledge, this is the fifth report of central core disease in the Korean literature.
