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dystonia type 16
Genetics:
- associated with defects in PRKRA
Clinical manifestations:
- early-onset dystonia-parkinsonism disorder
- progressive, generalized dystonia with axial muscle involvement
- oro-mandibular (sardonic smile)
- laryngeal dystonia
- in some cases, parkinsonian features
General
dystonia
genetic disease of muscle (inherited myopathy)
Database Correlations
OMIM 612067
References
OMIM :accession 612067