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
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ICD-10: |
G24.1 |
UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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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:
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(HPO:0000473) | Torticollis | 42 / 7739 | ||||
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(HPO:0000275) | Narrow face | 76 / 7739 | ||||
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(HPO:0009938) | Sunken cheeks | 1 / 7739 | ||||
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(HPO:0007325) | Generalized dystonia | 7 / 7739 | ||||
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(HPO:0001304) | Torsion dystonia | 13 / 7739 | ||||
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(HPO:0002066) | Gait ataxia | 327 / 7739 | ||||
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(HPO:0002451) | Limb dystonia | 16 / 7739 | ||||
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(HPO:0001618) | Dysphonia | 28 / 7739 | ||||
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(HPO:0002015) | Dysphagia | 301 / 7739 | ||||
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(OMIM) | Whispering dysphonia | 1 / 7739 | ||||
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(OMIM) | Abnormal 'hobby horse' ataxic gait | 1 / 7739 | ||||
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(OMIM) | Hollowed cheeks | 1 / 7739 | ||||
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(OMIM) | Bradykinetic tongue | 1 / 7739 | ||||
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(OMIM) | Thin body habitus | 5 / 7739 | ||||
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(OMIM) | Laryngeal adductor spasmodic dysphonia | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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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 ... |