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

More general terms

• dystonia
• genetic disease of muscle (inherited myopathy)

Database

• OMIM: https://mirror.omim.org/entry/612067