Hemidystonia-hemiatrophy syndrome
Synonyms: HD-HA syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood, Infancy, Neonatal
- Status
- active
Hemidystonia-hemiatrophy (HD-HA) is a rare dystonia, usually caused by a static cerebral injury occurring at birth or during infancy, that is characterized by a combination of hemidystonia (HD), involving one half of the body, and hemiatrophy (HA) on the same side as the HD.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hemidystonia-hemiatrophy syndrome | HD-HA syndrome |
| fr | Syndrome d'hémidystonie-hémiatrophie | Syndrome HD-HA |
| de | Hemidystonie-Hemiatrophie-Syndrom | HD-HA-Syndrom |
| es | Síndrome hemidistonía-hemiatrofia | Síndrome HD-HA |
| it | Sindrome emidistonia-emiatrofia | Sindrome HD-HA |
| nl | Hemidystonie-hemiatrofie-syndroom | HD-HA-syndroom |
| pt | Síndrome de hemidistonia-hemiatrofia | |
| pl | Zespół hemidystonia-hemiatrofia | Zespół HD-HA |
| cs | Syndrom zahrnující hemidystonii a hemiatrofii | HD-HA syndrom |
| uk | Синдром гемодистонії-геміатрофії | Синдром HD-HA |
| zh | 偏身性肌张力障碍-半侧颜面萎缩综合征 | 偏身性肌张力障碍-半侧颜面萎缩综合征 |
| tr | Hemidistoni-hemiatrofi sendromu | HD-HA sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G24.8 | NTBT | attributed | validated |
| MONDO | 0017649 | E | validated | |
| UMLS | C4510649 | 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:68363Rare dystonia
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 | 100 cases | Worldwide | Case(s) | Validated | [EXPERT]_ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | [EXPERT]_ORPHANET |
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
15 annotations · validated 2018-05-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012751 | Abnormal basal ganglia MRI signal intensity | |
| HP:0002518 | Abnormal periventricular white matter morphology | |
| HP:0001332 | Dystonia | |
| HP:0001269 | Hemiparesis | |
| Frequent (79-30%) | ||
| HP:0001787 | Abnormal delivery | |
| HP:0100556 | Hemiatrophy | |
| HP:0002451 | Limb dystonia | |
| Occasional (29-5%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0000245 | Abnormality of the paranasal sinuses | |
| HP:0010540 | Advanced pneumatization of cranial sinuses | |
| HP:0003487 | Babinski sign | |
| HP:0000250 | Dense calvaria | |
| HP:0001250 | Seizure | |
| Very rare (<4-1%) | ||
| HP:0001270 | Motor delay | |
| HP:0012106 | Rhizomelic leg shortening | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 19097182[PMID]_20482602[PMID]_22030388[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/306741
- This record as JSON: /data/d/306741.json