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torsion dystonia 1 (primary or idiopathic dystonia)
Epidemiology:
- most common & severetype of dystonia
Genetics:
- autosomal dominant
- associated with defects in tor1A gene
Clinical manifestations:
- sustained muscle contractions inducing twisting & repetitive movements &/or abnormal posture
- symptoms usually begin in the arms or legs at a mean age of 12 years & progress to other body parts within 5 years
General
dystonia
genetic disease of muscle (inherited myopathy)
Database Correlations
OMIM 128100
References
OMIM :accession 128100