Dyskinesia with orofacial involvement, autosomal dominant
MONDO:0800028A rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.
Also known as: FDFM, dyskinesia, familial, with facial myokymia, ADCY5-related dyskinesia
14 clinical trials for this condition and its sub-types, 2 tagged with Dyskinesia with orofacial involvement, autosomal dominant itself.
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Coffee as medicine? caffeine shows promise for rare movement disorder
Symptom relief CompletedThis small pilot study looked at whether caffeine can ease involuntary movements in people with a rare genetic condition called ADCY5-related dyskinesia. Fifteen participants took caffeine and reported how much their symptoms improved. The goal was to see if at least 40% of peopl…
Sponsor: Institut National de la Santé Et de la Recherche Médicale, France • Aim: Symptom relief
Last updated Jun 27, 2026 08:01 UTC
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Brain scan study reveals clues in rare movement disorders
Knowledge-focused CompletedThis study looked at how two brain regions—the cerebellum and striatum—communicate in people with dystonia caused by ADCY5 or PRRT2 gene mutations. Researchers used MRI scans and mild brain stimulation to compare brain activity among patients and healthy volunteers. The goal was …
Sponsor: Institut National de la Santé Et de la Recherche Médicale, France • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:58 UTC