/spinocerebellar ataxia type 34

spinocerebellar ataxia type 34

Rare Disease

MONDO:0007574

Also Known As

Erythrokeratodermia with AtaxiaSCA34erythrokeratodermia with ataxiaspinocerebellar ataxia and erythrokeratodermiaspinocerebellar ataxia type 34Giroux Barbeau syndromeerythrokeratodermia - ataxiaspinocerebellar ataxia 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.