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, 0 tagged with Joubert syndrome with Jeune asphyxiating thoracic dystrophy itself.
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Browse by category →Sub-types of Joubert syndrome with Jeune asphyxiating thoracic dystrophy
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Joubert syndrome 21 0 trials
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Brain study sheds light on Parkinson's and tics
Knowledge-focused CompletedThis completed study from the National Institute of Neurological Disorders and Stroke aimed to better understand how the brain controls movement and what goes wrong in movement disorders like Parkinson's disease, Tourette's syndrome, and dystonia. Over 1,200 adults—both patients …
Sponsor: National Institute of Neurological Disorders and Stroke (NINDS) • Aim: Knowledge-focused
Last updated Sep 20, 2026 00:00 UTC
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Wrist-Worn gadget could help doctors monitor Parkinson's at home
Knowledge-focused CompletedThis study tested a wrist-worn device called the Personal KinetiGraph (PKG) to see if it can accurately measure movement problems in people with Parkinson's disease. Nineteen participants wore the device while researchers compared its readings to standard clinical tests and video…
Sponsor: Global Kinetics Corporation • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:54 UTC