Primary dystonia, DYT4 type
Synonyms: DYT4 · Hereditary whispering dysphonia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult
- Status
- active
A rare genetic dystonia characterized predominantly by laryngeal dystonia/spasmodic dysphonia, mostly followed by cervical and generalized dystonia. Upper and lower limb dystonia, with the latter leading to a "hobby horse" gait (with toe walking, stiff legs, and a skipping gait), craniofacial and/or oro-pharyngeal dystonia have been reported in some patients. Severity and rate of progression vary among affected individuals ; some patients may have laryngeal or cervical dystonia as a life-long isolated feature, however most patients present with dystonia in other body sites.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary dystonia, DYT4 type | DYT4 · Hereditary whispering dysphonia |
| fr | Dystonie primaire type DYT4 | DYT4 |
| de | Dystonie, primäre, Typ DYT4 | DYT4 |
| es | Distonía primaria tipo DYT4 | |
| it | Distonia primaria, tipo DYT4 | |
| nl | Primaire dystonie, DYT4-type | DYT4 · Erfelijke fluisterdysfonie |
| pt | Distonia idiopática de torção não-DYT1 | |
| pl | Dystonia pierwotna, typ DYT4 | Dystonia pierwotna, typ DYT4 |
| cs | Primární dystonie, typ DYT4 | DYT4 · Hereditární šeptavá dysfonie |
| uk | Первинна дистонія, тип DYT4 | DYT4 · Спадкова дисфонія шепелявості |
| zh | 原发性肌张力障碍DYT4型 | 遗传性耳语言语障碍 |
| tr | Primer distoni, DYT4 tipi | DYT4 · Kalıtsal fısıldayan disfoni |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 128101 | E | validated | |
| ICD-10 | G24.1 | NTBT | attributed | validated |
| ICD-11 | 8A02.0Y | NTBT | index | validated |
| MONDO | 0007493 | E | validated | |
| MeSH | C536698 | E | validated | |
| UMLS | C1860315 | E | validated | |
| GARD | 10138 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:1866Focal, segmental or multifocal dystonia
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TUBB4A | Disease-causing germline mutation(s) in | Assessed | HGNC:20774 | ENSG00000104833 | 602662 | 19p13.3 | tubulin beta 4A class IVa |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21956287[PMID] |
| Cases/families | 22 cases | Worldwide | Case(s) | Validated | 21956287[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
17 annotations · validated 2018-03-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001618 | Dysphonia | |
| HP:0007325 | Generalized dystonia | |
| HP:0012049 | Laryngeal dystonia | |
| Frequent (79-30%) | ||
| HP:0003782 | Eunuchoid habitus | |
| HP:0001288 | Gait disturbance | |
| HP:0000182 | Movement abnormality of the tongue | |
| HP:0000194 | Open mouth | |
| HP:0009938 | Sunken cheeks | |
| HP:0000473 | Torticollis | |
| Occasional (29-5%) | ||
| HP:0000643 | Blepharospasm | |
| HP:0000726 | Dementia | |
| HP:0002075 | Dysdiadochokinesis | |
| HP:0002015 | Dysphagia | |
| HP:0004305 | Involuntary movements | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0002098 | Respiratory distress | |
| HP:0007351 | Upper limb postural tremor | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 21956287[PMID]_3156966[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98805
- This record as JSON: /data/d/98805.json