Congenital cerebellar ataxia due to RNU12 mutation
MONDO:0033717A 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.
18 clinical trials for this condition and its sub-types, 0 tagged with Congenital cerebellar ataxia due to RNU12 mutation itself.
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Robots as rehab coaches: a new approach to retraining coordination in ataxia
Disease control OngoingThis trial tests whether robot-assisted neurorehabilitation can improve coordination, balance, and walking in adults with ataxia, a condition that affects movement control. Participants will receive either robotic or standard rehabilitation, and researchers will measure changes i…
Sponsor: Somogy Megyei Kaposi Mór Teaching Hospital • Aim: Disease control
Last updated Jul 31, 2026 00:00 UTC
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Can a gentle brain zap help people with ataxia walk better?
Symptom relief OngoingThis study tests whether a non-invasive brain stimulation technique called transcranial direct current stimulation (tDCS) can improve movement in people with degenerative ataxia, a rare condition that damages the cerebellum and impairs balance and coordination. Sixteen participan…
Sponsor: University of Cagliari • Aim: Symptom relief
Last updated Jun 27, 2026 08:00 UTC