DYSTONIA 23

General Information (adopted from Orphanet):

Synonyms, Signs: DYT23
Number of Symptoms 14
OrphanetNr:
OMIM Id: 614860
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000473) Torticollis 42 / 7739
2
 (HPO:0002346) Head tremor variable [HPO:skoehler] 9 / 7739
3
 (HPO:0002451) Limb dystonia 16 / 7739
4
 (HPO:0002530) Axial dystonia 6 / 7739
5
 (HPO:0001288) Gait disturbance 318 / 7739
6
 (HPO:0002356) Writer's cramp 16 / 7739
7
 (HPO:0001618) Dysphonia 28 / 7739
8
 (HPO:0001336) Myoclonus 115 / 7739
9
 (HPO:0011675) Arrhythmia rare [HPO:skoehler] 226 / 7739
10
 (OMIM) Hypertrophy of the sternocleidomastoid muscle 1 / 7739
11
 (HPO:0001272) Cerebellar atrophy rare [HPO:skoehler] 197 / 7739
12
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
13
 (HPO:0003581) Adult onset 117 / 7739
14
 (HPO:0002120) Cerebral cortical atrophy rare [HPO:skoehler] 187 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Uitti and Maraganore (1993) reported a large family of German origin in which 5 individuals, including a pair of monozygotic twin brothers, had adult-onset cervical dystonia, typically during the fourth and fifth decades of life. Physical examination showed ...
Molecular genetics OMIM See 611420 for a possible association between variation in the CIZ1 gene and DYT23.