MCID: SPN388
MIFTS: 9

Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy

Categories: Neuronal diseases

Aliases & Classifications for Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy

MalaCards integrated aliases for Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy:

Name: Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
dopa-responsive rigidity


HPO:

32
spinocerebellar ataxia with rigidity and peripheral neuropathy:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 183050
MedGen 42 C1866770

Summaries for Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy

MalaCards based summary : Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy Affiliated tissues include skeletal muscle, and related phenotypes are ataxia and spasticity

More information from OMIM: 183050

Related Diseases for Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy

Symptoms & Phenotypes for Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy

Human phenotypes related to Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 spasticity 32 HP:0001257
3 dysarthria 32 HP:0001260
4 skeletal muscle atrophy 32 HP:0003202
5 decreased nerve conduction velocity 32 HP:0000762
6 rigidity 32 HP:0002063
7 fasciculations 32 HP:0002380
8 bradykinesia 32 HP:0002067
9 polyneuropathy 32 HP:0001271

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
spasticity
dysarthria
rigidity
fasciculations
bradykinesia
more
Muscle Soft Tissue:
atrophy

Neurologic Peripheral Nervous System:
peripheral neuropathy
nerve conduction abnormalities

Clinical features from OMIM:

183050

Drugs & Therapeutics for Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy

Genetic Tests for Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy

Anatomical Context for Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy

MalaCards organs/tissues related to Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy:

41
Skeletal Muscle

Publications for Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy

Articles related to Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy:

# Title Authors PMID Year
1
Late onset ataxia, rigidity, and peripheral neuropathy. A familial syndrome with variable therapeutic response to levodopa. 8
4340377 1972
2
[FAMILIAL CEREBELLAR ATROPHY WITH ASSOCIATION OF NIGERIAN AND SPINAL LESIONS]. 8
14119693 1964

Variations for Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy

Expression for Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy

Search GEO for disease gene expression data for Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy.

Pathways for Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy

GO Terms for Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy

Sources for Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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