Cerebellar ataxia, Cayman type

Orpha code: 94122OMIM code: 601238

Definition

A rare, autosomal recessive, congenital, cerebellar ataxia disorder characterized by hypotonia from birth, marked psychomotor delay and prominent cerebellar dysfunction (manifesting with nystagmus, intention tremor, dysarthria, ataxic gait and truncal ataxia), described in an isolated population of the Grand Cayman Island. Cerebellar hypoplasia, observed on CT scan, may be associated.

Disease data
Classification

Disease

Synonyms
Cayman ataxia
Ataksja Caymana
ORPHA code
94122
OMIM code
601238
ICD10 code
G11.0
ICD11 code
-

No additional description.

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