/X-linked non progressive cerebellar ataxia

X-linked non progressive cerebellar ataxia

Rare Disease

MONDO:0010404

Also Known As

SCAX5X-linked spinocerebellar ataxia type 5spinocerebellar ataxia, X-linked 5, X-linked recessivespinocerebellar ataxia, X-linked 5

Definition

X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.