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Orthopaedic aspects of central core disease
J G Gamble1, L A Rinsky, J H Lee
1Children's Hospital at Stanford, Palo Alto, California 94304.
The Journal of Bone and Joint Surgery. American Volume
|August 1, 1988
Summary
Central core disease, a congenital myopathy, often presents with hip dislocations, joint instability, and proximal muscle weakness. This study highlights significant orthopedic challenges in affected individuals.
Area of Science:
- Neurology
- Orthopedics
- Genetics
Background:
- Central core disease is a non-progressive congenital myopathy.
- It is typically inherited as an autosomal dominant trait.
- Infants exhibit hypotonia and developmental delay, progressing to proximal muscle weakness in adolescence/adulthood.