Primary dystonia, DYT4 type

General Information (adopted from Orphanet):

Synonyms, Signs: DYSTONIA MUSCULORUM DEFORMANS 4
WHISPERING DYSPHONIA, HEREDITARY
DYT4
Hereditary whispering dysphonia
Number of Symptoms 16
OrphanetNr: 98805
OMIM Id: 128101
ICD-10: G24.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adolescent
Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Focal, segmental or multifocal dystonia
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000473) Torticollis 42 / 7739
2
(HPO:0000275) Narrow face 76 / 7739
3
(HPO:0009938) Sunken cheeks 1 / 7739
4
(HPO:0007325) Generalized dystonia 7 / 7739
5
(HPO:0001304) Torsion dystonia 13 / 7739
6
(HPO:0002066) Gait ataxia 327 / 7739
7
(HPO:0002451) Limb dystonia 16 / 7739
8
(HPO:0001618) Dysphonia 28 / 7739
9
(HPO:0002015) Dysphagia 301 / 7739
10
(OMIM) Whispering dysphonia 1 / 7739
11
(OMIM) Abnormal 'hobby horse' ataxic gait 1 / 7739
12
(OMIM) Hollowed cheeks 1 / 7739
13
(OMIM) Bradykinetic tongue 1 / 7739
14
(OMIM) Thin body habitus 5 / 7739
15
(OMIM) Laryngeal adductor spasmodic dysphonia 1 / 7739
16
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Dystonia-4, also known as whispering dysphonia, is an autosomal dominant neurologic disorder characterized by onset in the second to third decade of progressive laryngeal dysphonia followed by the involvement of other muscles, such as the neck or limbs. ...
Clinical Description OMIM Parker (1985) described an extensive Australian kindred in which persons through 4 generations and by implication a fifth had torsion dystonia manifested mainly by a whispering dysphonia. They were able to shout and yell when emotional, had no ...
Molecular genetics OMIM In members of the large multigenerational family of English and Australian origin with dystonia and Wilson disease originally reported by Parker (1985), Wilcox et al. (2011) identified mutations in the ATP7B gene (606882), thus explaining the Wilson disease ...