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Spinocerebellar ataxia type 34
rareA subtype of autosomal dominant cerebellar ataxia type I (ADCA type I), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.
- Identifiers
- MONDO:0007574 OMIM:133190Orphanet:1955
- Causal genes
- ELOVL4
- Also known as
- erythrokeratodermia - ataxia · Erythrokeratodermia with Ataxia · Giroux Barbeau syndrome · SCA34 · spinocerebellar ataxia 34
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