Mondo Description Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.
Uniprot Description An early-onset dystonia-parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT16 patients have progressive, generalized dystonia with axial muscle involvement, oro-mandibular (sardonic smile) and laryngeal dystonia and, in some cases, parkinsonian features.
Disease Ontology Description A multifocal dystonia characterized by autosomal recessive inheritance of early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism that has material basis in homozygous mutation in the PRKRA gene on chromosome 2q31.
Mondo Term and Equivalent IDs
MONDO:0012789: dystonia 16