Hemiparkinsonism-hemiatrophy syndrome
Synonyms: HP-HA syndrome
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adolescent, Adult
- Status
- active
Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral, hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantar responses are frequently associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hemiparkinsonism-hemiatrophy syndrome | HP-HA syndrome |
| fr | Syndrome d'hémiparkinsonisme-hémiatrophie | Syndrome HP-HA |
| de | Hemiparkinson-Hemiatrophie-Syndrom | HP-HA-Syndrom |
| es | Síndrome hemiparkinsonianismo-hemiatrofia | Síndrome HP-HA |
| it | Sindrome emiparkinsonismo-emiatrofia | Sindrome HP-HA |
| nl | Hemiparkinsonisme-hemiatrofie-syndroom | HP-HA-syndroom |
| pt | Síndrome hemiatrofia-hemiparkinsonismo | |
| pl | Zespół hemiparkinsonizm-hemiatrofia | Zespół HP-HA |
| cs | Syndrom zahrnující hemiparkinsonismus a hemiatrofii | HP-HA syndrom |
| uk | Синдром геміпаркінсонізму-геміатрофії | Синдром HP-HA |
| zh | 偏侧帕金森综合征 | 偏侧帕金森综合征 |
| tr | Hemiparkinsonizm-hemiatrofi sendromu | HP-HA sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G20 | NTBT | attributed | validated |
| ICD-11 | 8A00.21 | E | specific | validated |
| MONDO | 0017636 | E | validated | |
| UMLS | C4545231 | 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 (2):
- ORPHA:307055Rare parkinsonian syndrome due to genetic neurodegenerative disease
rare genetic diseases - ORPHA:306666Rare parkinsonian syndrome due to neurodegenerative disease
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 |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23986429[PMID] |
| Cases/families | 68 cases | Worldwide | Case(s) | Validated | 23986429[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 2018-05-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002067 | Bradykinesia | |
| HP:0012444 | Brain atrophy | |
| HP:0001260 | Dysarthria | |
| HP:0001332 | Dystonia | |
| HP:0001290 | Generalized hypotonia | |
| HP:0100556 | Hemiatrophy | |
| HP:0011331 | Hemifacial atrophy | |
| HP:0001269 | Hemiparesis | |
| HP:0006801 | Hyperactive deep tendon reflexes | |
| HP:0006956 | Lateral ventricle dilatation | |
| HP:0012768 | Neonatal asphyxia | |
| HP:0001300 | Parkinsonism | |
| HP:0001337 | Tremor | |
| Occasional (29-5%) | ||
| HP:0100308 | Cerebral cortical hemiatrophy | |
| HP:0000716 | Depression | |
| HP:0001288 | Gait disturbance | |
| HP:0002650 | Scoliosis | |
Annotation source: 21361726[PMID]_17938368[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/306669
- This record as JSON: /data/d/306669.json