Congenital cerebellar ataxia due to RNU12 mutation
A rare hereditary ataxia characterized by delayed motor milestones in early infancy hypotonia ataxic gait intention tremor nystagmus dysarthric speech and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration with an almost absent inferior lobule and thinning of the folia of the vermis. In addition cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Congenital cerebellar ataxia due to RNU12 mutation?
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