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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 210571
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.
It has been described in 8 patients from three Brazilian families and one German family to date.
Disease presents in infancy to late childhood with one of two possible phenotypes: either generalized dystonia or dystonia-parkinsonism not responsive to L-Dopa. Dystonia usually starts in one limb, becomes generalized and mainly affects the trunk, neck and oromandibular muscles. Motor and speech developmental delays were also reported. The phenotypic spectrum of this disease is still being determined. Pharmacological therapy is ineffective.
DYT16 is caused by mutations in the protein kinase, interferon-inducible double stranded RNA dependent activator ( PRKRA ) gene, located on chromosome 2q31.2.
DYT16 is inherited in an autosomal recessive manner, and genetic counseling is possible and recommended.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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