Spinocerebellar ataxia type 34
Spinocerebellar ataxia type 34
Definition
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, spinocerebellar ataxia and erythrokeratodermia, spinocerebellar ataxia type 34 — per MONDO