Dystonia 17, Torsion, Autosomal Recessive

Alternative Names

DYT17

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WHO-ICD-10 version:2010

Diseases of the nervous system

Extrapyramidal and movement disorders

OMIM Number

612406

Mode of Inheritance

Autosomal recessive

Gene Map Locus

20p11.2-q13.12

Description

Dystonia refers to a group of neurological disorders characterized by abnormal involuntary and sustained twisting movements that may affect one or more sites in the body. Dystonia can be clasisfied into several sub-types, based on the genetic loci involved.

Epidemiology in the Arab World

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Lebanon

Other Reports

Lebanon

Chouery et al. (2008) studied a consanguineous Lebanese family with three affected patienst with primary focal torsion dystonia. Homozygosity mapping in the family identified a novel locus within a 20.5 Mb interval on chromosome 20. None of the 27 candidate genes tested in this region showed any causative variants.

External Links

https://dystonia-foundation.org/what-is-dystonia/genetics/ https://ghr.nlm.nih.gov/condition/early-onset-primary-dystonia https://rarediseases.org/rare-diseases/dystonia/ https://www.ncbi.nlm.nih.gov/books/NBK1155/

Contributors

Pratibha Nair: 04.03.2019

Edit History

Pratibha Nair: 04.03.2019