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dystonia 16

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
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
DOID:0090048: dystonia 16
GARD:0010539: 
MESH:C567430: 
Orphanet:210571: 
SCTID:722435003: 
UMLS:C2677567: