Spinocerebellar ataxia type 23

Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.



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Total: 0 (papers)
  


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 10

HPO ID Term Frequency
HP:0001347 Hyperreflexia Very frequent (99-80%)
HP:0002066 Gait ataxia Very frequent (99-80%)
HP:0002070 Limb ataxia Very frequent (99-80%)
HP:0002073 Progressive cerebellar ataxia Very frequent (99-80%)
HP:0000514 Slow saccadic eye movements Frequent (79-30%)
HP:0001260 Dysarthria Frequent (79-30%)
HP:0001310 Dysmetria Frequent (79-30%)
HP:0003487 Babinski sign Frequent (79-30%)
HP:0006886 Impaired distal vibration sensation Frequent (79-30%)
HP:0010831 Impaired proprioception Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
PDYN prodynorphin 5173