DYT4: Whispering dysphonia
Evidence-based neurology checklist on dyt4: whispering dysphonia: Genetics This is caused by mutations in the TUBB4A gene on chromosome 19 The transmission is autosomal dominant Clinical features Differential diagnosis
Genetics
- This is caused by mutations in the TUBB4A gene on chromosome 19
- The transmission is autosomal dominant
Clinical features
Differential diagnosis
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.
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- DYT8: Paroxysmal non-kinesigenic dyskinesia 1 (PNKD1)
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- DYT11: Myoclonus dystonia: clinical features
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