Adult-onset autosomal recessive cerebellar ataxia

General Information (adopted from Orphanet):

Synonyms, Signs: SCAR10
Autosomal recessive spinocerebellar ataxia type 10
Number of Symptoms 19
OrphanetNr: 284289
OMIM Id: 613728
ICD-10: G11.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive cerebellar ataxia
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000639) Nystagmus 555 / 7739
2
 (HPO:0007338) Hypermetric saccades 5 / 7739
3
 (HPO:0001310) Dysmetria 76 / 7739
4
 (HPO:0002080) Intention tremor rare [HPO:skoehler] 44 / 7739
5
 (HPO:0001347) Hyperreflexia 363 / 7739
6
 (HPO:0002078) Truncal ataxia 41 / 7739
7
 (HPO:0002066) Gait ataxia 327 / 7739
8
 (HPO:0001260) Dysarthria 329 / 7739
9
 (HPO:0001249) Intellectual disability rare [HPO:skoehler] 1089 / 7739
10
 (HPO:0002380) Fasciculations 42 / 7739
11
 (HPO:0002070) Limb ataxia 41 / 7739
12
 (HPO:0001761) Pes cavus 225 / 7739
13
 (OMIM) Saccadic pursuit 7 / 7739
14
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
 (OMIM) Tortuous conjunctival vessels (1 family) 1 / 7739
16
 (HPO:0001272) Cerebellar atrophy 197 / 7739
17
 (OMIM) Cerebellar atrophy, severe 1 / 7739
18
 (OMIM) Mild atrophy of the proximal lower limbs 1 / 7739
19
 (OMIM) EMG may show mild lower motor neuron involvement 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Autosomal recessive spinocerebellar ataxia-10 is an autosomal recessive neurodegenerative disorder with onset in the teenage or young adult years of gait and limb ataxia, dysarthria, and nystagmus associated with marked cerebellar atrophy on brain imaging (summary by Vermeer ...
Clinical Description OMIM Vermeer et al. (2010) reported a Dutch family with remote consanguinity in which 3 sibs developed spinocerebellar ataxia between ages 20 and 35 years. Clinical features included impaired coordination of limbs and gait, dysarthria, hyperreflexia, and gaze-evoked downbeat ...
Molecular genetics OMIM In affected members of 3 unrelated families with SCAR10, Vermeer et al. (2010) identified homozygous or compound heterozygous mutations in the ANO10 gene (613726.0001-613726.0004).