Spinocerebellar ataxia type 34

MONDO:0007574

A 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.

Also known as: Erythrokeratodermia with Ataxia, SCA34, erythrokeratodermia with ataxia, spinocerebellar ataxia and erythrokeratodermia, spinocerebellar ataxia type 34, Giroux Barbeau syndrome, erythrokeratodermia - ataxia, spinocerebellar ataxia 34

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