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Scoliosis associated with central core disease
T Nagai1, Y Tsuchiya, A Maruyama
1Department of Pediatrics, Tokyo Metropolitan Kiyose Children's Hospital, Japan.
Brain & Development
|March 1, 1994
Summary
Central core disease, a congenital myopathy, can present with significant scoliosis even with mild limb weakness. This spinal condition is a notable feature, warranting neurological evaluation for idiopathic scoliosis cases.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Central core disease is a congenital myopathy characterized by specific muscle pathology.
- Scoliosis is a common finding in many neuromuscular disorders, often correlating with disease progression and ambulation status.
Observation:
- A pediatric case of central core disease presented with severe scoliosis and minimal extremity muscle weakness.
- Muscle biopsies revealed type 1 fiber abnormalities, with core structures identified only in specific muscles (biceps brachii, not paraspinous).
Findings:
- Review of 10 central core disease patients showed 6 ambulant individuals with mild-to-moderate scoliosis.
- Scoliosis appears disproportionately prominent in central core disease compared to the degree of limb muscle weakness.
Implications:
- Scoliosis may be a key early indicator of central core disease, even with subtle neurological symptoms.
- Neurological assessment is crucial for all patients diagnosed with idiopathic scoliosis to rule out underlying myopathies like central core disease.