Joubert syndrome with Jeune asphyxiating thoracic dystrophy
MONDO:0018342Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes.
Also known as: JBTS with JATD, Joubert syndrome with JATD
18 clinical trials for this condition and its sub-types.
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Broader categories
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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