The majority of patients have a homozygous PRKRA mutation, although compound heterozygotes are described.

Mode of Inheritance

The condition is autosomal recessive. 

Clinical Presentation

The median AAO was 8 years, with 20% of cases presenting in adolescence. The majority of PRKRA mutation carriers have generalized dystonia1.
All patients have limb dystonia and also laryngeal, craniofacial, and axial involvement, and cervical involvement is common.

GPi-DBS may be the only effective treatment option


  1. Lange LM, Junker J, Loens S, Baumann H, Olschewski L, Schaake S, Madoev H, Petkovic S, Kuhnke N, Kasten M, Westenberger A, Domingo A, Marras C, König IR, Camargos S, Ozelius LJ, Klein C, Lohmann K. Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review. Mov Disord. 2021 May;36(5):1086-1103. doi: 10.1002/mds.28485. Epub 2021 Jan 27. PMID: 33502045.