Genetics
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.
Treatment
GPi-DBS may be the only effective treatment option