These are a group of dystonias
Oppenheim’s dystonia a.k.a. dystonia musculorum deformans 1 a.k.a. DYT1:
Diagnosis:
Genetics:
- Autosomal dominant
- Torsin A gene, chr. 9q34
Clinical features:
- <26 y.o. starts as a focal dystonia (usually foot) then generalises
Lubag a.k.a. X-linked dystonia Parkinsonism a.k.a. DYT3:
Diagnosis:
- X-linked, Xq13.1, TAF1 gene, protein= transcription factor,
- Adults, 30y.o. (large spectrum 12-52y.o.), starts as Dystonia, Parkinsonism may develop latera
Dystonia 4 a.k.a. DYT4:
Diagnosis:
- Autosomal dominant
- Laryngeal & cervical dystonia +/-psychiatric symptoms
Dopa responsive dystonia a.k.a. DYT5 a.k.a. GCH1 a.k.a. Segawa syndrome:
Diagnosis:
Trial of levodopa, 2 months long. This should be tried in all childhood onset dystonias
Genetics:
Autosomal dominant
GTP cyclohydrase I gene (GCH1) mutation, protein= GTP cyclohydrase I, causes dopa responsive dystonia
Treatment:
Levodopa
Dystonia 6 a.k.a. DYT6:
Diagnosis:
Autosomal dominant
Chr. 8p21-p22. THAP1= gene, protein= thanatos-associated protein [THAP] domain-containing apoptosis-associated protein 1 = a transcription factor
Dystonia 7 a.k.a. DYT7:
Diagnosis:
Autosomal dominant
Chr. 18p
Paroxysmal nonkinesigenic dyskinesia a.k.a. Dystonia 8 a.k.a. DYT8, formerly paroxysmal dystonic choreoathetosis, Mount–Reback syndrome:
Diagnosis:
Genetics:
- Autosomal dominant
- Chr. 2q33-q35
Clinical features:
- childhood to adulthood, episodes 2 min- 4 hours, dystonia, chorea or dyskinesia
Dystonia 9 a.k.a. DYT9:
Diagnosis:
Genetics:
- Autosomal dominant
- Chr. 1p13.3-1p21
Clinical features:
Childhood, chronic spastic paraplegia, dystonia, choreoathetosis, paraesthesia, diplopia
Dystonia 10 a.k.a. DYT10:
Diagnosis:
Autosomal dominant
Chr. 16p11.2-q12.1
Myoclonus-dystonia syndrome a.k.a. DYT11:
Diagnosis:
Genetics:
- Autosomal dominant
- SGCE gene Chr. 7q21-7q31, epsilon sarcoglycan protein
Clinical features:
- myoclonus, dystonia, seizures, depression, OCD, alcohol responsive in some patients
Rapid onset dystonia parkinsonism RDP a.k.a. DYT12:
Diagnosis:
Genetics:
- Autosomal dominant, variable penetrance.
- ATP1A3 gene. Protein= Na+/K+-ATPase alpha three (a3) subunit
Clinical features:
- Adolescents, young adults. Abrupt onset of dystonia and parkinsonism, a rostrocaudal gradient, prominent bulbar findings. Psychological triggers. Minimal/no response with dopaminergic drugs.
Dystonia 13 a.k.a. DYT13:
Diagnosis:
Genetics:
- Autosomal dominant
- 1p36.13-1p36.32,
Clinical features:
- focal dystonia, craniocervical, children to adulthood,
Deafness-dystonia syndrome 1 a.k.a. Mohr-Tranebjaerg syndrome a.k.a. DFN-1/MTS:
Diagnosis:
Genetics:
- X-linked, Xq22
Clinical features:
- childhood, dystonia, sensorineural hearing loss, spasticity, mental retardation, cortical blindness,
Leber’s hereditary optic neuropathy plus dystonia:
- See under Leber’s hereditary optic neuropathy/mitochondrial disorders