DYT17: Early onset autosomal recessive dystonia

Evidence-based neurology checklist on dyt17: early onset autosomal recessive dystonia: Genetics This is caused by mutations in chromosome 20 The transmission is autosomal recessive It was reported in one Lebanese family It causes early onset focal dystonia and severe dysarthria Clinical features

Genetics

  • This is caused by mutations in chromosome 20
  • The transmission is autosomal recessive
  • It was reported in one Lebanese family
  • It causes early onset focal dystonia and severe dysarthria

Clinical features

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. Chouery E, Kfoury J, Delague V, et al. A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22-q13.12. Neurogenetics 2008; 9:287-293. 

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