SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs: SPAX2
Number of Symptoms 17
OrphanetNr:
OMIM Id: 611302
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000666) Horizontal nystagmus 32 / 7739
2
 (HPO:0002066) Gait ataxia 327 / 7739
3
 (HPO:0001257) Spasticity 251 / 7739
4
 (HPO:0002599) Head titubation 7 / 7739
5
 (HPO:0002359) Frequent falls 24 / 7739
6
 (HPO:0001260) Dysarthria 329 / 7739
7
 (HPO:0001310) Dysmetria 76 / 7739
8
 (HPO:0002380) Fasciculations 42 / 7739
9
 (HPO:0001347) Hyperreflexia 363 / 7739
10
 (HPO:0002497) Spastic ataxia 13 / 7739
11
 (HPO:0003487) Babinski sign 179 / 7739
12
 (HPO:0003693) Distal amyotrophy 118 / 7739
13
 (OMIM) Spasticity of the limbs 1 / 7739
14
 (OMIM) Cerebellar gait ataxia 1 / 7739
15
 (HPO:0001272) Cerebellar atrophy rare [HPO:skoehler] 197 / 7739
16
 (HPO:0003676) Progressive disorder 148 / 7739
17
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Bouslam et al. (2007) reported a consanguineous Moroccan family in which 4 sibs had spastic ataxia. All had onset of dysarthria at age 14 years followed by gait ataxia, and 3 developed mild spasticity in all limbs. All ...