Primary dystonia, DYT21 type

General Information (adopted from Orphanet):

Synonyms, Signs: DYT21
Number of Symptoms 5
OrphanetNr: 306734
OMIM Id: 614588
ICD-10: G24.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Generalized isolated dystonia
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000473) Torticollis 42 / 7739
2
(HPO:0000643) Blepharospasm 20 / 7739
3
(HPO:0012049) Laryngeal dystonia 7 / 7739
4
(HPO:0001332) Dystonia 197 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Dystonia-21 (DYT21) is an autosomal dominant form of pure torsion dystonia, a movement disorder characterized by sustained muscle contractions causing twisting and repetitive movements and abnormal postures (summary by Norgren et al., 2011).
Clinical Description OMIM Forsgren et al. (1988) reported a large Swedish kindred with autosomal dominant inheritance of dystonia. Blepharospasm and torticollis were prevalent in affected persons. The mean age of onset of the disease was 31 years, and the disease progressed ...