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

More general terms

• dystonia
• genetic disease of muscle (inherited myopathy)
• congenital anomaly (birth defect)

Database

• OMIM: https://mirror.omim.org/entry/607371