| Central Core Disease : Clinical Characteristics of Family Members Manifested by Autosomal Dominant Pattern through Three Generations |
| Kee Hyung Park, Dong Jin Shin, and Seung Hyun Kim |
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| Copyright © 2006 The Korean Society of Clinical Neurophysiology |
| This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium,
provided the original work is properly cited. |
| ABSTRACT |
Background: central core disease is one of the non-progressive benign congenital myopathies characterized by the presence of cores in muscle fibers, which was originally described by Shy and Magee (1956). We describe clinical charcteristics of central core disease in a Korean family manifested by autosomal dominant pattern through three generations.
Methods: Clinical, serologic, and electrophysiologic profiles were evaluated in eleven members among 22 family members through three generations.
Results: Six family members were symptomatic and five were non-symptomatic. Instead of proximal muscle weakness, musculoskeletal manifestations including non-specific joint pain and stiff sense were the most frequent symptoms. Muscle biopsy performed in two symptomatic patients revealed that type Ifiber showed central halo, which is charactreristics of central core disease. No remarkable findings were present in serologic study including CPK level and electromyographic findings suggesting myopathic pattern were only present in two patients among 11 symptomatic group.
Conclusions: In evaluating non-specific musculoskeletal complaints from the familial members showing genetic trait, central core disease should be considered to one of the possible diagnosis. |
| Key words:
Myopathy, Central core, Congenital, Musculoskeletal disease |
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