DYSTONIA 24

General Information (adopted from Orphanet):

Synonyms, Signs: DYT24
Number of Symptoms 11
OrphanetNr:
OMIM Id: 615034
ICD-10:
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: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000473) Torticollis 42 / 7739
2
(HPO:0000643) Blepharospasm rare [HPO:skoehler] 20 / 7739
3
(HPO:0002346) Head tremor rare [HPO:skoehler] 9 / 7739
4
(HPO:0004373) Focal dystonia 9 / 7739
5
(HPO:0012048) Oromandibular dystonia rare [HPO:skoehler] 7 / 7739
6
(OMIM) Laryngeal tremor 1 / 7739
7
(OMIM) Voice tremor 1 / 7739
8
(HPO:0003829) Incomplete penetrance 85 / 7739
9
(OMIM) Dystonic posturing of the upper limb 1 / 7739
10
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
11
(OMIM) Tremor of the upper limb 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Dystonia-24 is an autosomal dominant form of focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs (summary by Charlesworth et al., 2012).
Clinical Description OMIM Munchau et al. (2000) reported a British family in which 5 individuals had craniocervical dystonia. The mean age at onset was 29 years (range, 19 to 40). Another individual was possibly affected. All patients had jerky cervical dystonia; ...
Molecular genetics OMIM In affected members of a British family with autosomal dominant dystonia-24 reported by Munchau et al. (2000), Charlesworth et al. (2012) identified a heterozygous mutation in the ANO3 gene (R494W; 610110.0001). The mutation, which was identified by linkage ...