Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia

General Information (adopted from Orphanet):

Synonyms, Signs: SCAR7
Autosomal recessive spinocerebellar ataxia type 7
Number of Symptoms 21
OrphanetNr: 284324
OMIM Id: 609270
ICD-10: G11.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[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:0007338) Hypermetric saccades 5 / 7739
2
 (HPO:0000651) Diplopia 37 / 7739
3
 (HPO:0000639) Nystagmus 555 / 7739
4
 (HPO:0001152) Saccadic smooth pursuit 6 / 7739
5
 (HPO:0002495) Impaired vibratory sensation 26 / 7739
6
 (HPO:0003487) Babinski sign 179 / 7739
7
 (HPO:0001347) Hyperreflexia 363 / 7739
8
 (HPO:0001260) Dysarthria 329 / 7739
9
 (HPO:0002066) Gait ataxia 327 / 7739
10
 (HPO:0002312) Clumsiness 28 / 7739
11
 (HPO:0001251) Ataxia 413 / 7739
12
 (HPO:0002174) Postural tremor 22 / 7739
13
 (HPO:0002070) Limb ataxia 41 / 7739
14
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
 (OMIM) Clumsiness in childhood 1 / 7739
16
 (HPO:0003677) Slow progression 134 / 7739
17
 (OMIM) Cerebellar atrophy seen on MRI 1 / 7739
18
 (HPO:0003621) Juvenile onset 105 / 7739
19
 (OMIM) Decreased vibration sense, suggesting posterior column involvement 1 / 7739
20
 (HPO:0001272) Cerebellar atrophy 197 / 7739
21
 (OMIM) Difficulty writing 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Breedveld et al. (2004) reported a Dutch family in which 5 sibs were affected with childhood-onset, slowly progressive spinocerebellar ataxia. The authors assumed autosomal recessive inheritance. All patients were examined as adults (age range from 46 to 64 ...
Molecular genetics OMIM In affected members of a Dutch family with autosomal recessive spinocerebellar ataxia-7, originally reported by Breedveld et al. (2004), Sun et al. (2013) identified compound heterozygous mutations in the TPP1 gene: a splice site mutation resulting in premature ...