DYT25: Cervical dystonia with local spread
Evidence-based neurology checklist on dyt25: cervical dystonia with local spread: 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…
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
Treatment
References
- Dufke C, Sturm M, Schroeder C, et al. Screening of mutations in GNAL in sporadic dystonia patients. Mov Disord 2014; 29:1193-1196.
- Dauer W. Inherited isolated dystonia: clinical genetics and gene function. Neurotherapeutics 2014; 11:807-816.
- 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.
- Fuchs T, Saunders-Pullman R, Masuho I, et al. Mutations in GNAL cause primary torsion dystonia. Nat Genet 2013; 45:88-92.
- Putzel GG, Fuchs T, Battistella G, et al. GNAL mutation in isolated laryngeal dystonia. Mov Disord 2016; 31:750-755.
Related checklists
- DYT15: Myoclonic dystonia 15
- DYT16: Autosomal recessive dystonia-parkinsonism
- DYT17: Early onset autosomal recessive dystonia
- DYT18: Paroxysmal exercise-induced dyskinesia (PED)
- DYT19: Paroxysmal kinesigenic dyskinesia 2 (PKD2)
- DYT20: Paroxysmal non-kinesigenic dyskinesia 2 (PNKD2)
- DYT21: Late onset dystonia
- DYT22: Dystonia 22
- DYT23: Dystonia 23
- DYT24: Dystonia 24
- DYT26: Myoclonic dystonia 26
- DYT27: Dystonia 27
- DYT28: Dystonia 28
- DYT29: Dystonia 29
- DYT30: Dystonia 30
- DYT31: Dystonia 31
- DYT32: Dystonia 32
- DYT33: Dystonia 33
- DYT34: Dystonia 34
- DYT35: Dystonia 35
