DYT1: Early onset primary dystonia

Evidence-based neurology checklist on dyt1: early onset primary dystonia: Genetics This is caused by mutations in the DYT1 (TOR1A) gene on chromosome 9 It is a GAG deletion The transmission is autosomal dominant with reduced penetrance The gene product is Torsin A Demographic features Dystonia…

Genetics

  • This is caused by mutations in the DYT1 (TOR1A) gene on chromosome 9
  • It is a GAG deletion
  • The transmission is autosomal dominant with reduced penetrance
  • The gene product is Torsin A

Demographic features

Dystonia phenotypes

Dystonia features

Differential diagnosis

Treatment

Synonyms

References

  1. Muller U. The monogenic primary dystonias. Brain 2009; 132:2005-2025.
  2. Albanese A, Asmus F, Bhatia KP, et al. EFNS guidelines on diagnosis and treatment of primary dystonias. Eur J Neurol 2011; 18:5-18.
  3. Ledoux MS, Dauer WT, Warner TT. Emerging common molecular pathways for primary dystonia. Mov Disord 2013; 28:968-981. 
  4. Grundmann K, Laubis-Herrmann U, Bauer I, et al. Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia. Arch Neurol 2003; 60:1266-1270.
  5. Tanabe LM, Kim CE, Alagem N, Dauer WT. Primary dystonia: molecules and mechanisms. Nat Rev Neurol 2009; 5:598-609.
  6. And 8 more. Subscribe to see the full list

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