DYT17: Early onset autosomal recessive dystonia

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

DYT17: Early onset autosomal recessive dystonia. This is caused by mutations in chromosome 20. Fully referenced neurology checklist.

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

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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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