Orphanet: Dystonia 16

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Dystonia 16

Disease definition

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.

ORPHA:210571

Classification level: Disorder

Synonym(s):
- DYT16
- Early-onset dystonia parkinsonism
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Infancy, Childhood
ICD-10: G24.1
OMIM: 612067
UMLS: C2677567
MeSH: -
GARD: 10539
MedDRA: -

Summary

Epidemiology

It has been described in 8 patients from three Brazilian families and one German family to date.

Clinical description

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.

Etiology

DYT16 is caused by mutations in the protein kinase, interferon-inducible double stranded RNA dependent activator (PRKRA) gene, located on chromosome 2q31.2.

Genetic counseling

DYT16 is inherited in an autosomal recessive manner, and genetic counseling is possible and recommended.

Expert reviewer(s): Dr Christoph KAMM - Last update: November 2013

A summary on this disease is available in Deutsch (2013) Español (2013) Français (2013) Italiano (2013) Nederlands (2013) Russian (2013, pdf) Polski (2013, pdf) Polski (2013)

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