Ataxia - telangiectasia variant
MONDO:0018266Ataxia-telangiectasia variant is a rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present.
Also known as: v-AT
13 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsBroader categories
-
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 …
Phase: NA • Sponsor: National Institute of Neurological Disorders and Stroke (NINDS) • Aim: Knowledge-focused
Last updated Jul 04, 2026 00:00 UTC
-
Dystonia study reveals hidden brain changes beyond muscle twists
Knowledge-focused CompletedThis study looked at 102 adults with dystonia, a condition causing involuntary muscle contractions. Researchers used questionnaires and brain wave recordings to assess memory, attention, mood, and decision-making. The goal was to better understand the non-motor symptoms of dyston…
Phase: NA • Sponsor: IRCCS Centro Neurolesi Bonino Pulejo • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:02 UTC
-
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