Torsion dystonia
From SNPedia
Torsion dystonia Wikipedia is a movement disorder caused by mutations in the TOR1A gene. About 1 in 1,000 to 3,000 Ashkenazi Jews carries a TOR1A mutation. A person who has a single copy of a mutated TOR1A gene has roughly a 1 in 3 chance of developing symptoms, usually beginning around age 12. Mutations in TOR1A are rarer in other populations. A child who develops torsion dystonia may also have been born with a new mutation in the TOR1A gene that is not inherited from either parent. Interestingly, patients with this condition tend to have high IQs. [1]
There are at least four SNPs associated with torsion dystonia in SNPedia:
- rs80358233, known as deltaE302; 23andMe (only) uses the term i4000446
- rs80358235
- rs1801968, Asp216His or D216H
- rs267607134, F205I or Phe205Ile
