DYT13: Familial cranio-cervical dystonia
Evidence-based neurology checklist on dyt13: familial cranio-cervical dystonia: Genetics This is caused by mutations in chromosome 1 The transmission is autosomal dominant It typically presents with cranio-cervical dystonia Clinical feature
Genetics
- This is caused by mutations in chromosome 1
- The transmission is autosomal dominant
- It typically presents with cranio-cervical dystonia
Clinical feature
References
- Bentivoglio AR, Del Grosso N, Albanese A, Cassetta E, Tonali P, Frontali M. Non-DYT1 dystonia in a large Italian family. JNNP 1997; 62:357-360.
- Valente EM, Bentivoglio AR, Cassetta E, et al. DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13--36.32 in an Italian family with cranial-cervical or upper limb onset. Ann Neurol 2001; 49:362-366.
Related checklists
- DYT1: Early onset primary dystonia
- DYT2: Autosomal recessive torsion dystonia
- DYT3: X-linked dystonia (Lubag)
- DYT4: Whispering dysphonia
- DYT5: Dopa-responsive dystonia (DRD): clinical features
- DYT5: Dopa-responsive dystonia (DRD): variants and differentials
- DYT5: Dopa-responsive dystonia (DRD): management
- DYT6: Adult onset mixed torsion dystonia
- DYT7: Focal adult onset torsion dystonia
- DYT8: Paroxysmal non-kinesigenic dyskinesia 1 (PNKD1)
- DYT9: Choreoathetosis/spasticity, episodic (CSE)
- DYT10: Paroxysmal kinesigenic dyskinesia 1 (PKD1)
- DYT11: Myoclonus dystonia: clinical features
- DYT11: Myoclonus dystonia: management
- DYT12: Rapid onset dystonia-parkinsonism (RDP)
- DYT14: Dystonia 14
