Autosomal recessive cerebellar ataxia due to STUB1 deficiency

Orpha code: 412057OMIM code: 615768

Definition

A rare hereditary ataxia characterized by progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated.

Disease data
Classification

Disease

Synonyms
SCAR16
Autosomalna recesywna ataksja rdzeniowo-móżdżkowa typu 16
SCAR16
Spinocerebellar ataxia autosomal recessive type 16
ORPHA code
412057
OMIM code
615768
ICD10 code
G11.1
ICD11 code
-

No additional description.

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