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dystonia juvenile-onset
Genetics:
- associated with defects in beta-actin (ACTB)
Clinical manifestations:
- also see dystonia
- sustained involuntary muscle contraction, often leading to abnormal postures
- progressive, generalized, L-dopa unresponsive dystonia, developmental malformations & sensory hearing loss
General
dystonia
genetic disease of muscle (inherited myopathy)
congenital anomaly (birth defect)
Database Correlations
OMIM 607371
References
OMIM :accession 607371