DYT25: Cervical dystonia with local spread

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

DYT25: Cervical dystonia with local spread. This is caused by mutations in the GNAL) gene on chromosome 18. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the GNAL) gene on chromosome 18
  • The transmission is autosomal dominant
  • It causes childhood to adult onset dystonia
  • It may begin as late as the sixth decade

Clinical features

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Treatment

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References

  1. Dufke C, Sturm M, Schroeder C, et al. Screening of mutations in GNAL in sporadic dystonia patients. Mov Disord 2014; 29:1193-1196. 
  2. Dauer W. Inherited isolated dystonia: clinical genetics and gene function. Neurotherapeutics 2014; 11:807-816.  
  3. Carecchio M, Panteghini C, Reale C, et al. Novel GNAL mutation with intra-familial clinical heterogeneity: Expanding the phenotype. Parkinsonism Relat Disord 2016; 23:66-71.
  4. Fuchs T, Saunders-Pullman R, Masuho I, et al. Mutations in GNAL cause primary torsion dystonia. Nat Genet 2013; 45:88-92.
  5. Putzel GG, Fuchs T, Battistella G, et al. GNAL mutation in isolated laryngeal dystonia. Mov Disord 2016; 31:750-755.

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