EOCA
MCID: CRB160
MIFTS: 22

Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes (EOCA)

Categories: Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes

MalaCards integrated aliases for Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes:

Name: Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes 57
Harding Ataxia 59 73
Eoca 57 59
Early-Onset Cerebellar Ataxia with Retained Tendon Reflexes 59
Eocarr 59

Characteristics:

Orphanet epidemiological data:

59
early-onset cerebellar ataxia with retained tendon reflexes
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Italy),1-9/100000 (Europe); Age of onset: Adolescent,Adult,Childhood; Age of death: adult;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 212895
Orphanet 59 ORPHA1177
MESH via Orphanet 45 C535633
UMLS via Orphanet 74 C0393520
ICD10 via Orphanet 34 G11.1
MedGen 42 C0393520
UMLS 73 C0393520

Summaries for Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes

MalaCards based summary : Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes, also known as harding ataxia, is related to harding ataxia and ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, and has symptoms including cerebellar ataxia Related phenotypes are nystagmus and dysarthria

Description from OMIM: 212895

Related Diseases for Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes

Diseases related to Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 harding ataxia 11.7
2 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.4
3 aceruloplasminemia 10.3
4 olivopontocerebellar atrophy 10.1

Symptoms & Phenotypes for Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes

Clinical features from OMIM:

212895

Human phenotypes related to Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes:

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
2 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
3 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
4 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
5 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
6 pes cavus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001761
7 progressive cerebellar ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002073
8 progressive gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0007240
9 lower limb muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0007340
10 lower limb spasticity 59 32 occasional (7.5%) Occasional (29-5%) HP:0002061
11 hyperreflexia in upper limbs 59 32 frequent (33%) Frequent (79-30%) HP:0007350
12 lower limb hypertonia 59 32 frequent (33%) Frequent (79-30%) HP:0006895
13 generalized amyotrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003700
14 sensory impairment 59 32 frequent (33%) Frequent (79-30%) HP:0003474
15 hyperactive patellar reflex 59 32 frequent (33%) Frequent (79-30%) HP:0007083
16 jerky ocular pursuit movements 59 32 frequent (33%) Frequent (79-30%) HP:0008003
17 abnormal ekg 59 32 occasional (7.5%) Occasional (29-5%) HP:0003115
18 impaired visuospatial constructive cognition 59 32 occasional (7.5%) Occasional (29-5%) HP:0010794
19 decreased/absent ankle reflexes 59 32 occasional (7.5%) Occasional (29-5%) HP:0200101
20 diabetes mellitus 59 Excluded (0%)
21 abnormal pyramidal signs 59 Frequent (79-30%)
22 optic atrophy 59 Excluded (0%)
23 cardiomyopathy 59 Excluded (0%)
24 multiple skeletal anomalies 59 Excluded (0%)
25 abnormal pyramidal sign 32 frequent (33%) HP:0007256

UMLS symptoms related to Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes:


cerebellar ataxia

Drugs & Therapeutics for Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes

Search Clinical Trials , NIH Clinical Center for Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes

Genetic Tests for Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes

Anatomical Context for Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes

Publications for Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes

Articles related to Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes:

# Title Authors Year
1
Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missed. ( 23828538 )
2013
2
Genetic analysis of early onset cerebellar ataxia with retained tendon reflexes in four Tunisian families. ( 11298681 )
2001
3
Early onset cerebellar ataxia with retained tendon reflexes (EOCA) and olivopontocerebellar atrophy (OPCA): a computed tomographic study. ( 10625898 )
1999
4
Early onset cerebellar ataxia with retained tendon reflexes: foot deformity in a first grade family member. ( 10622455 )
1999
5
Early onset cerebellar ataxia with retained tendon reflexes comparison with Friedreich's ataxia and olivopontocerebellar atrophy : an evoked potential study. ( 29509152 )
1997
6
Early onset cerebellar ataxia with retained tendon reflexes (EOCA): an electromyographic study. ( 8877321 )
1996
7
Magnetic resonance imaging in "typical" and "late onset" Friedreich's disease and early onset cerebellar ataxia with retained tendon reflexes. ( 8537218 )
1995
8
Early onset cerebellar ataxia with retained tendon reflexes: a clinical, electrophysiological and computed tomographic study. ( 8773062 )
1995
9
Reduced life expectancy in 40 cases of early onset cerebellar ataxia with retained tendon reflexes: a population-based study. ( 8296536 )
1993

Variations for Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes

Expression for Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes

Search GEO for disease gene expression data for Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes.

Pathways for Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes

GO Terms for Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes

Sources for Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes

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