Infantile-onset generalized dyskinesia with orofacial involvement
Synonyms: Infantile-onset orofacial-trunk-limbs dyskinesia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare hyperkinetic movement disorder characterized by delayed motor development and infantile onset of axial hypotonia and a generalized hyperkinetic movement disorder, principally with dyskinesia of the limbs and trunk, and facial involvement including orolingual dyskinesia, drooling, and dysarthria. Variable hyperkinetic movements may include a jerky quality, intermittent chorea and ballismus. Brain imaging is normal and cognitive performance is typically preserved.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Infantile-onset generalized dyskinesia with orofacial involvement | Infantile-onset orofacial-trunk-limbs dyskinesia |
| fr | Dyskinésie généralisée à début infantile avec atteinte orofaciale | Dyskinésie des membres-tronc-orofacial à début infantile |
| de | Infantile generalisierte Dyskinesie mit orofazialer Beteiligung | Orofaziale-Rumpf-Glieder-Dyskinesie mit Beginn im Kindesalter |
| es | Discinesia generalizada con afectación orofacial de inicio en la lactancia | Discinesia de estremidades-tronco-orofacial de inicio en la lactancia |
| it | Discinesia generalizzata ad esordio neonatale con interessamento orofacciale | |
| nl | Gegeneraliseerde dyskinesie met orofaciale betrokkenheid met aanvang in de zuigelingentijd | Orofaciale-romp-ledematen-dyskinesie met aanvang in de zuigelingentijd |
| pt | Discinesia generalizada de início na infância com envolvimento orofacial | |
| pl | Uogólniona dyskinezja o wczesnym początku w niemowlęctwie z zajęciem ust i twarzy | Dyskinezja niemowlęca ust i twarzy, tułowia i konczyn |
| cs | Generalizovaná dyskinezie s orofaciálním postižením s nástupem v kojeneckém věku | Dyskineze v orofaciální oblasti, oblasti trupu a koncetin s nástupem v detství · Dyskineze v orofaciální oblasti, oblasti trupu a končetin s nástupem v dětství |
| uk | Інфантильна генералізована дискінезія з орофаціальним ураженням | Дискінезія лицьового нерва, тулуба та кінцівок, що починається в дитячому віці |
| zh | 婴儿期发作的广泛性运动障碍伴口面部受累 | 婴儿期发作的口面-躯干-肢体运动障碍 |
| tr | Orofasiyal tutulumla seyreden infantil başlangıçlı jeneralize diskinezi | İnfantil başlangıçlı orofasiyal gövde ekstremite diskinezi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616921 | E | validated | |
| ICD-10 | G24.8 | NTBT | attributed | not yet validated |
| MONDO | 0044637 | E | validated | |
| UMLS | C5567464 | 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:1866Focal, segmental or multifocal dystonia
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PDE10A | Disease-causing germline mutation(s) in | Assessed | HGNC:8772 | ENSG00000112541 | 610652 | 6q27 | phosphodiesterase 10A | 27058446[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 27058446[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27058446[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
13 annotations · validated 2018-10-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002310 | Orofacial dyskinesia | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0008936 | Axial hypotonia | |
| HP:0002072 | Chorea | |
| HP:0002307 | Drooling | |
| HP:0001260 | Dysarthria | |
| HP:0011968 | Feeding difficulties | |
| HP:0002359 | Frequent falls | |
| HP:0001270 | Motor delay | |
| HP:0011470 | Nasogastric tube feeding in infancy | |
| HP:0002317 | Unsteady gait | |
| Occasional (29-5%) | ||
| HP:0100248 | Hemiballismus | |
| HP:0001337 | Tremor | |
| Excluded (0%) | ||
| HP:0012444 | Brain atrophy | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 27058446[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/494526
- This record as JSON: /data/d/494526.json