SPINOCEREBELLAR ATAXIA WITH RIGIDITY AND PERIPHERAL NEUROPATHY

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 14
OrphanetNr:
OMIM Id: 183050
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002067) Bradykinesia 62 / 7739
2
(HPO:0001271) Polyneuropathy 56 / 7739
3
(HPO:0001257) Spasticity 251 / 7739
4
(HPO:0002380) Fasciculations 42 / 7739
5
(HPO:0001260) Dysarthria 329 / 7739
6
(HPO:0001251) Ataxia 413 / 7739
7
(HPO:0002063) Rigidity 92 / 7739
8
(HPO:0000762) Decreased nerve conduction velocity 36 / 7739
9
(HPO:0009830) Peripheral neuropathy 206 / 7739
10
(HPO:0003202) Skeletal muscle atrophy 281 / 7739
11
(OMIM) Cerebellar degeneration 1 / 7739
12
(OMIM) Spinal tract degeneration 1 / 7739
13
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
14
(MedDRA:10003694) Atrophy 7 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ziegler et al. (1972) described a large kindred in which many persons were affected with a variable neurologic disorder: late-onset cerebellar ataxia, muscular rigidity, bradykinesia, dysarthria, fasciculations, muscle atrophy, and spasticity, appearing in various combinations. There were many ...