DYT4: Whispering dysphonia
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
DYT4: Whispering dysphonia. This is caused by mutations in the TUBB4A gene on chromosome 19. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the TUBB4A gene on chromosome 19
- The transmission is autosomal dominant
Clinical features
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Differential diagnosis
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References
- Muller U. The monogenic primary dystonias. Brain 2009; 132:2005-2025.
- Albanese A, Asmus F, Bhatia KP, et al. EFNS guidelines on diagnosis and treatment of primary dystonias. Eur J Neurol 2011; 18:5-18.
- Ledoux MS, Dauer WT, Warner TT. Emerging common molecular pathways for primary dystonia. Mov Disord 2013; 28:968-981.
- Müller U. The monogenic primary dystonias. Brain 2009; 132:2005-2025.
- Zech M, Boesch S, Jochim A, et al. Large-scale TUBB4A mutational screening in isolated dystonia and controls. Parkinsonism Relat Disord 2015; 21:1278-1281.
Related checklists
- DYT1: Early onset primary dystonia
- DYT2: Autosomal recessive torsion dystonia
- DYT3: X-linked dystonia (Lubag)
- 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)
- DYT13: Familial cranio-cervical dystonia
- DYT14: Dystonia 14
