Early-onset cerebellar ataxia with retained tendon reflexes
Synonyms: EOCA · EOCARR · Harding ataxia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Early-onset cerebellar ataxia with retained tendon reflexes | EOCA · EOCARR · Harding ataxia |
| fr | Ataxie cérébelleuse précoce avec conservation des réflexes tendineux | Ataxie de Harding · EOCA · EOCARR |
| de | Ataxie, zerebelläre, früh beginnende, mit Erhalt der Sehnenreflexe | EOCA · EOCARR · Harding-Ataxie |
| es | Ataxia cerebelosa de inicio precoz con preservación de reflejos tendinosos | Ataxia cerebelosa temprana con preservación de reflejos tendinosos · Ataxia de Harding · EOCA · EOCARR |
| it | Atassia cerebellare precoce con conservazione dei riflessi tendinei | Atassia di Harding · EOCA · EOCARR |
| nl | Vroeg optredende cerebellaire ataxie met behoud van peesreflexen | Ataxie van Harding · EOCA · EOCARR |
| pt | Ataxia cerebelosa de início precoce com reflexos tendinosos preservados | Ataxia de Harding |
| pl | Ataksja możdżkowa o wczesnym początku z zachowanym odruchem ścięgnistym | Ataksja Hardinga · EOCA · EOCARR |
| cs | Časně začínající mozečková ataxie se zachovalými svalovými reflexy | EOCA · EOCARR · Hardingova ataxie |
| uk | Рання мозочкова атаксія зі збереженими сухожильними рефлексами | EOCA · EOCARR · Атаксія Хардінга |
| zh | 早发型小脑共济失调伴肌腱反射保留 | Harding共济失调 |
| tr | Korunmuş tendon refleksleri ile erken başlangıçlı serebellar ataksi | EOCA · EOCARR · Harding ataksi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 212895 | E | validated | |
| ICD-10 | G11.1 | NTBT | attributed | validated |
| ICD-11 | 8A03.1Y | NTBT | index | validated |
| MONDO | 0008938 | E | validated | |
| MeSH | C535633 | E | validated | |
| UMLS | C0393520 | E | validated | |
| GARD | 2600 | 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:98098Autosomal recessive degenerative and progressive cerebellar ataxia
rare genetic diseases; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 2.08 / 100 000 | Italy | Value and class | Validated | 8330454[PMID] |
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Italy | Value and class | Validated | 8330454[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Validated | 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
24 annotations · validated 2018-03-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002073 | Progressive cerebellar ataxia | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0001260 | Dysarthria | |
| HP:0002015 | Dysphagia | |
| HP:0007083 | Hyperactive patellar reflex | Diagnostic criterion |
| HP:0007350 | Hyperreflexia in upper limbs | Diagnostic criterion |
| HP:0008003 | Jerky ocular pursuit movements | |
| HP:0006895 | Lower limb hypertonia | |
| HP:0000639 | Nystagmus | |
| HP:0007240 | Progressive gait ataxia | |
| HP:0003474 | Somatic sensory dysfunction | |
| Occasional (29-5%) | ||
| HP:0003115 | Abnormal EKG | |
| HP:0100543 | Cognitive impairment | |
| HP:0200101 | Decreased/absent ankle reflexes | |
| HP:0003700 | Generalized amyotrophy | |
| HP:0010794 | Impaired visuospatial constructive cognition | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0002061 | Lower limb spasticity | |
| HP:0001761 | Pes cavus | |
| HP:0002650 | Scoliosis | |
| Excluded (0%) | ||
| HP:0001638 | Cardiomyopathy | |
| HP:0000819 | Diabetes mellitus | |
| HP:0005775 | Multiple skeletal anomalies | |
| HP:0000648 | Optic atrophy | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 7276963[PMID]_8330454[PMID]_9686785[PMID]_1884166[PMID]_2213043[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1177
- This record as JSON: /data/d/1177.json