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Torsion dystonia 2
rareA dystonia characterized by segmental dystonia that predominantly affects the distal limbs and leads to abnormal posture. This disease has a progressive clinical course and may develop into generalized dystonia but remains mild overall.
- Identifiers
- MONDO:0009141 OMIM:224500Orphanet:99657
- Causal genes
- HPCA
- Part of
- Complex movement disorder with or without neurodevelopmental featuresFocal, segmental or multifocal dystonia
- Also known as
- autosomal recessive torsion dystonia 2 · dystonia 2, torsion, autosomal recessive · dystonia musculorum deformans type 2 · dystonic disorder caused by mutation in HPCA · DYT2
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