Ataxia-oculomotor apraxia type 4
Synonyms: AOA4
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare autosomal recessive cerebellar ataxia characterized by onset of dystonia and other extrapyramidal signs, ataxia, oculomotor apraxia, and progressive sensorimotor polyneuropathy in the first decade of life. Patients present distal muscle weakness and atrophy, decreased vibratory sensation, and areflexia, and usually become wheelchair-bound by the third decade. Variable cognitive impairment may also be seen.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ataxia-oculomotor apraxia type 4 | AOA4 |
| fr | Syndrome d'ataxie-apraxie oculo-motrice type 4 | = en |
| de | Ataxie mit okulomotorischer Apraxie Typ 4 | = en |
| es | Ataxia-apraxia oculomotora tipo 4 | = en |
| it | Atassia-aprassia oculomotoria tipo 4 | |
| nl | Ataxie - oculomotorische apraxie type 4 | = en |
| pt | Ataxia-oculomotora apraxia tipo 4 | |
| pl | Ataksja-apraksja okulomotoryczna typu 4 | = en |
| cs | Ataxie a okulomotorická apraxie, typ 4 | = en |
| uk | Атаксія-окуломоторна апраксія, тип 4 | = en |
| zh | 共济失调动眼性失用4型 | = en |
| tr | Ataksi-okülomotor apraksi tip 4 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616267 | E | validated | |
| ICD-10 | G60.2 | NTBT | attributed | validated |
| MONDO | 0014557 | E | validated | |
| UMLS | C4225397 | E | validated | |
| GARD | 13111 | 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 (4):
- ORPHA:98099Autosomal recessive syndromic cerebellar ataxia
rare genetic diseases; rare neurological diseases - ORPHA:98497Genetic peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:98688Oculomotor apraxia
rare genetic diseases; rare ophthalmic disorders - ORPHA:370106Rare disorder with dystonia and other neurologic or systemic manifestation
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PNKP | Disease-causing germline mutation(s) in | Assessed | HGNC:9154 | ENSG00000039650 | 605610 | 19q13.33 | polynucleotide kinase 3'-phosphatase | 25728773[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 25728773[PMID]_27066586[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25728773[PMID]_27066586[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
21 annotations · validated 2018-12-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0001251 | Ataxia | |
| Frequent (79-30%) | ||
| HP:0100543 | Cognitive impairment | |
| HP:0001332 | Dystonia | |
| HP:0001513 | Obesity | |
| HP:0000657 | Oculomotor apraxia | |
| HP:0009830 | Peripheral neuropathy | |
| Occasional (29-5%) | ||
| HP:0000570 | Abnormal saccadic eye movements | |
| HP:0001780 | Abnormality of toe | |
| HP:0009053 | Distal lower limb muscle weakness | |
| HP:0001260 | Dysarthria | |
| HP:0002442 | Dyscalculia | |
| HP:0010522 | Dyslexia | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0003560 | Muscular dystrophy | |
| HP:0001761 | Pes cavus | |
| HP:0002172 | Postural instability | |
| HP:0008955 | Progressive distal muscular atrophy | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0000736 | Short attention span | |
| HP:0003474 | Somatic sensory dysfunction | |
| Excluded (0%) | ||
| HP:0001009 | Telangiectasia | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 29498415[PMID]_28552035[PMID]_25728773[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/459033
- This record as JSON: /data/d/459033.json