Scoliosis pathophysiology
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Pathophysiology
Genetics
In the case of the most common form of scoliosis, Adolescent Idiopathic Scoliosis, there is a clear Mendelian inheritance but with incomplete penetrance.
In April 2007, researchers at Texas Scottish Rite Hospital for Children identified the first gene associated with idiopathic scoliosis, CHD7. The medical breakthrough was the result of a 10-year study and is outlined in the May 2007 issue of the American Journal of Human Genetics.[1]
Associated conditions
Scoliosis is sometimes associated with other conditions such as
- Cerebral palsy
- Spinal muscular atrophy
- Familial dysautonomia
- CHARGE syndrome
- Friedreich's ataxia
- Spina bifida
- Marfan's syndrome
- Neurofibromatosis
- Connective tissue disorder
- Craniospinal axis disorders (e.g., syringomyelia, Arnold-Chiari malformation).
However, the majority of people with adolescent scoliosis have no pain or other abnormalities.
References
- ↑ Texas Scottish Rite Hospital for Children Research: Scoliosis Research