DYSTONIA 17, TORSION, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs: DYT17
Number of Symptoms 5
OrphanetNr:
OMIM Id: 612406
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000473) Torticollis 42 / 7739
2
(HPO:0001618) Dysphonia 28 / 7739
3
(HPO:0001260) Dysarthria 329 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
(OMIM) Dystonia, progressive 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Chouery et al. (2008) reported a large consanguineous Lebanese family in which 3 sisters had primary focal torsion dystonia beginning with torticollis at ages 17, 19, and 14 years, respectively. Two or 3 years later, the symptoms spread, ...