Dystonia-aphonia syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
Dystonia-aphonia syndrome is a rare, genetic, persistent combined dystonia disorder characterized by slowly progressive, severe, caudo-rostrally spreading generalized dystonia with prominent facial and oro-mandibular involvement leading to severe anarthria and/or aphonia, swallowing difficulties, and gait disturbances. Additional manifestations include slowed horizontal saccades, subclinical epilepsy, photic myoclonus, oral hypertrophic changes (e.g. gingival or lingual hyperplasia), as well as delayed milestones and cognitive impairment.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dystonia-aphonia syndrome | |
| fr | Syndrome de dystonie-aphonie | |
| de | Dystonia-Aphonie-Syndrom | |
| es | Síndrome de distonía-afonía | |
| it | Sindrome da distonia e afonia | |
| nl | Dystonie - afonie-syndroom | |
| pt | Síndrome de distonia - afonia | |
| pl | Zespół dystonia-afonia | |
| cs | Syndrom zahrnující dystonii a afonii | |
| uk | Синдром дистонії-афонії | |
| zh | 肌张力障碍-失声综合征 | |
| tr | Distoni-afoni sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G24.8 | NTBT | attributed | validated |
| MONDO | 0018476 | E | validated | |
| UMLS | C5190573 | 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:391711Persistent combined dystonia
rare genetic diseases; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 32 cases | Worldwide | Case(s) | Validated | 24359844[PMID]_26924602[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26924602[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
24 annotations · validated 2018-04-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001260 | Dysarthria | |
| HP:0002015 | Dysphagia | |
| HP:0001288 | Gait disturbance | |
| HP:0007325 | Generalized dystonia | |
| HP:0005216 | Impaired mastication | |
| HP:0000183 | Tongue muscle weakness | |
| Frequent (79-30%) | ||
| HP:0012087 | Abnormal mitochondrial shape | |
| HP:0012088 | Abnormal urinary odor | |
| HP:0008777 | Abnormal vocal cord morphology | |
| HP:0002425 | Anarthria | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0002059 | Cerebral atrophy | |
| HP:0000158 | Macroglossia | |
| HP:0007327 | Mixed demyelinating and axonal polyneuropathy | |
| HP:0012048 | Oromandibular dystonia | |
| HP:0001250 | Seizure | |
| HP:0007885 | Slowed horizontal saccades | |
| HP:0002317 | Unsteady gait | |
| Occasional (29-5%) | ||
| HP:0000739 | Anxiety | |
| HP:0100543 | Cognitive impairment | |
| HP:0001618 | Dysphonia | |
| HP:0000212 | Gingival overgrowth | |
| HP:0001263 | Global developmental delay | |
| HP:0001336 | Myoclonus | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 24359844[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/412217
- This record as JSON: /data/d/412217.json