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 58
Harding Ataxia 60 74
Eoca 58 60
Early-Onset Cerebellar Ataxia with Retained Tendon Reflexes 60
Eocarr 60

Characteristics:

Orphanet epidemiological data:

60
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: 60  
Rare neurological diseases


External Ids:

OMIM 58 212895
MESH via Orphanet 46 C535633
ICD10 via Orphanet 35 G11.1
UMLS via Orphanet 75 C0393520
Orphanet 60 ORPHA1177
MedGen 43 C0393520
UMLS 74 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 progressive cerebellar ataxia and nystagmus

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 11.8
2 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.5
3 aceruloplasminemia 10.4
4 ataxia and polyneuropathy, adult-onset 10.3
5 olivopontocerebellar atrophy 10.1

Graphical network of the top 20 diseases related to Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes:



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

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

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

60 33 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive cerebellar ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002073
2 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
3 dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0001260
4 dysphagia 60 33 frequent (33%) Frequent (79-30%) HP:0002015
5 abnormal pyramidal sign 60 33 frequent (33%) Frequent (79-30%) HP:0007256
6 progressive gait ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0007240
7 hyperreflexia in upper limbs 60 33 frequent (33%) Frequent (79-30%) HP:0007350
8 lower limb hypertonia 60 33 frequent (33%) Frequent (79-30%) HP:0006895
9 sensory impairment 60 33 frequent (33%) Frequent (79-30%) HP:0003474
10 hyperactive patellar reflex 60 33 frequent (33%) Frequent (79-30%) HP:0007083
11 jerky ocular pursuit movements 60 33 frequent (33%) Frequent (79-30%) HP:0008003
12 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
13 cognitive impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0100543
14 pes cavus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001761
15 lower limb muscle weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0007340
16 lower limb spasticity 60 33 occasional (7.5%) Occasional (29-5%) HP:0002061
17 generalized amyotrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0003700
18 abnormal ekg 60 33 occasional (7.5%) Occasional (29-5%) HP:0003115
19 impaired visuospatial constructive cognition 60 33 occasional (7.5%) Occasional (29-5%) HP:0010794
20 decreased/absent ankle reflexes 60 33 occasional (7.5%) Occasional (29-5%) HP:0200101
21 diabetes mellitus 60 Excluded (0%)
22 optic atrophy 60 Excluded (0%)
23 cardiomyopathy 60 Excluded (0%)
24 multiple skeletal anomalies 60 Excluded (0%)

Clinical features from OMIM:

212895

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:

(show all 16)
# 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 (EOCA) with retained reflexes: reduced cerebellar benzodiazepine-receptor binding, progressive metabolic and cognitive impairment. ( 9686785 )
1998
6
Early onset cerebellar ataxia with retained tendon reflexes comparison with Friedreich's ataxia and olivopontocerebellar atrophy : an evoked potential study. ( 29509152 )
1997
7
Early onset cerebellar ataxia with retained tendon reflexes (EOCA): an electromyographic study. ( 8877321 )
1996
8
Magnetic resonance imaging in "typical" and "late onset" Friedreich's disease and early onset cerebellar ataxia with retained tendon reflexes. ( 8537218 )
1995
9
Early onset cerebellar ataxia with retained tendon reflexes: a clinical, electrophysiological and computed tomographic study. ( 8773062 )
1995
10
Reduced life expectancy in 40 cases of early onset cerebellar ataxia with retained tendon reflexes: a population-based study. ( 8296536 )
1993
11
Early onset cerebellar ataxia with retained tendon reflexes: prevalence and gene frequency in an Italian population. ( 8330454 )
1993
12
Is early onset cerebellar ataxia with retained tendon reflexes identifiable by electrophysiologic and histologic profile? A comparison with Friedreich's ataxia. ( 1469454 )
1992
13
Early onset cerebellar ataxia with retained tendon reflexes. Clinical, electrophysiological and MRI observations in comparison with Friedreich's ataxia. ( 1884166 )
1991
14
Clinical and genetic heterogeneity in early onset cerebellar ataxia with retained tendon reflexes. ( 2213043 )
1990
15
Early-onset cerebellar ataxia with retained tendon reflexes. ( 2618587 )
1989
16
Early onset cerebellar ataxia with retained tendon reflexes: a clinical and genetic study of a disorder distinct from Friedreich's ataxia. ( 7276963 )
1981

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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