Spinocerebellar ataxia type 34

Orpha code: 1955OMIM code: 133190

Definition

An autosomal dominant cerebellar ataxia type I that is characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.

Disease data
Classification

Disease

Synonyms
Erythrokeratodermia with ataxia
Ataksja rdzeniowo-móżdżkowa z erytrokeratodermią
Erytrokeratodermia z ataksją
SCA34
SCA34
Spinocerebellar ataxia and erythrokeratodermia
ORPHA code
1955
OMIM code
133190
ICD10 code
G11.1
ICD11 code
8A03.16

No additional description.

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