Spinocerebellar ataxia type 20

Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation.



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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: 19

HPO ID Term Frequency
HP:0001260 Dysarthria Very frequent (99-80%)
HP:0001272 Cerebellar atrophy Frequent (79-30%)
HP:0001618 Dysphonia Frequent (79-30%)
HP:0002067 Bradykinesia Frequent (79-30%)
HP:0002514 Cerebral calcification Frequent (79-30%)
HP:0007338 Hypermetric saccades Frequent (79-30%)
HP:0012049 Laryngeal dystonia Frequent (79-30%)
HP:0030188 Tremor by anatomical site Frequent (79-30%)
HP:0000640 Gaze-evoked nystagmus Occasional (29-5%)
HP:0001251 Ataxia Occasional (29-5%)
HP:0001347 Hyperreflexia Occasional (29-5%)
HP:0002066 Gait ataxia Occasional (29-5%)
HP:0002321 Vertigo Occasional (29-5%)
HP:0007256 Abnormal pyramidal sign Occasional (29-5%)
HP:0007351 Upper limb postural tremor Occasional (29-5%)
HP:0010545 Downbeat nystagmus Occasional (29-5%)
HP:0030185 Isometric tremor Occasional (29-5%)
HP:0030186 Kinetic tremor Occasional (29-5%)
HP:0002080 Intention tremor Very rare (4-1%)


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
SCA20 spinocerebellar ataxia 20 407973