Early-onset cerebellar ataxia with retained tendon reflexes
diseaseOn this page
Also known as ataxia, harding typecerebellar ataxia early onset with retained tendon reflexcerebellar ataxia, early-onset, with retained tendon reflexesEOCAEOCARRHarding ataxia
Summary
Early-onset cerebellar ataxia with retained tendon reflexes (MONDO:0008938) is a disease and 1 clinical trial. A subtype of autosomal recessive degenerative and progressive cerebellar ataxia — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: 1-9 / 100 000 (Europe) [Orphanet-validated]
- Phenotypes (HPO): 24
- Clinical trials: 1
Clinical features
Epidemiology
Prevalence records
3 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | Europe | Validated | |
| Point prevalence | 1-9 / 100 000 | 1 | Italy | Validated |
| Prevalence at birth | 1-9 / 100 000 | 2.08 | Italy | Validated |
Signs & symptoms
Clinical features (HPO)
24 HPO clinical features (Orphanet curated; top 24 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0002073 | Progressive cerebellar ataxia | Very frequent (80-99%) |
| HP:0000639 | Nystagmus | Frequent (30-79%) |
| HP:0001260 | Dysarthria | Frequent (30-79%) |
| HP:0002015 | Dysphagia | Frequent (30-79%) |
| HP:0003474 | Somatic sensory dysfunction | Frequent (30-79%) |
| HP:0006895 | Lower limb hypertonia | Frequent (30-79%) |
| HP:0007083 | Hyperactive patellar reflex | Frequent (30-79%) |
| HP:0007240 | Progressive gait ataxia | Frequent (30-79%) |
| HP:0007256 | Abnormal pyramidal sign | Frequent (30-79%) |
| HP:0007350 | Hyperreflexia in upper limbs | Frequent (30-79%) |
| HP:0008003 | Jerky ocular pursuit movements | Frequent (30-79%) |
| HP:0001761 | Pes cavus | Occasional (5-29%) |
| HP:0002061 | Lower limb spasticity | Occasional (5-29%) |
| HP:0002650 | Scoliosis | Occasional (5-29%) |
| HP:0003115 | Abnormal EKG | Occasional (5-29%) |
| HP:0003700 | Generalized amyotrophy | Occasional (5-29%) |
| HP:0007340 | Lower limb muscle weakness | Occasional (5-29%) |
| HP:0010794 | Impaired visuospatial constructive cognition | Occasional (5-29%) |
| HP:0100543 | Cognitive impairment | Occasional (5-29%) |
| HP:0200101 | Decreased/absent ankle reflexes | Occasional (5-29%) |
| HP:0000648 | Optic atrophy | Excluded (0%) |
| HP:0000819 | Diabetes mellitus | Excluded (0%) |
| HP:0001638 | Cardiomyopathy | Excluded (0%) |
| HP:0005775 | Multiple skeletal anomalies | Excluded (0%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | early-onset cerebellar ataxia with retained tendon reflexes |
| Mondo ID | MONDO:0008938 |
| MeSH | C535633 |
| OMIM | 212895 |
| Orphanet | 1177 |
| SNOMED CT | 230228004 |
| UMLS | C0393520 |
| MedGen | 140726 |
| GARD | 0002600 |
| Is cancer (heuristic) | no |
Also known as: ataxia, harding type · cerebellar ataxia early onset with retained tendon reflex · cerebellar ataxia, early-onset, with retained tendon reflexes · EOCA · EOCARR · Harding ataxia
Disease family
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › autosomal genetic disease › autosomal recessive disease › autosomal recessive cerebellar ataxia › autosomal recessive degenerative and progressive cerebellar ataxia › early-onset cerebellar ataxia with retained tendon reflexes
Related subtypes (6): Marinesco-Sjogren syndrome, mitochondrial DNA depletion syndrome 7 (hepatocerebral type), congenital cataracts-facial dysmorphism-neuropathy syndrome, early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome, Friedreich ataxia, FLVCR1-related retinopathy with or without ataxia
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 1.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT01793168 | Not specified | RECRUITING | Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.