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Primary dystonia, DYT27 type
Disease definition
A rare genetic dystonia characterized by focal or segmental isolated dystonia involving the face, neck, upper limbs (commonly writing dystonia), larynx, or trunk, with an onset from childhood to early adulthood. Dystonia may be tremulous, giving rise to head or hand tremor. Mode of inheritance is autosomal recessive.
ORPHA:464440
Classification level: Disorder- Synonym(s): -
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Childhood, Adult
- ICD-10: G24.1
- OMIM: 616411
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
A summary on this disease is available in Deutsch (2020) Español (2020) Français (2020) Nederlands (2020)
Detailed information
Guidelines
- Clinical practice guidelines
- English (2011) - Eur J Neurol


Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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