DYT2: Autosomal recessive torsion dystonia

Evidence-based neurology checklist on dyt2: autosomal recessive torsion dystonia: Genetics This is caused by mutations in the HPCA gene on chromosome 1 The transmission is autosomal recessive It was first reported in Spanish gypsy families It causes childhood or adolescent onset dystonia Main…

Genetics

  • This is caused by mutations in the HPCA gene on chromosome 1
  • The transmission is autosomal recessive
  • It was first reported in Spanish gypsy families
  • It causes childhood or adolescent onset dystonia

Main clinical features

Features of craniocervical spread

Synonym

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. Müller U. The monogenic primary dystonias. Brain 2009; 132:2005-2025.
  5. Khan NL, Wood NW, Bhatia KP. Autosomal recessive, DYT2-like primary torsion dystonia: a new family. Neurology 2003; 61:1801-1803.
  6. And 4 more. Subscribe to see the full list

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