dyskinesia with orofacial involvement, autosomal dominant
Findings
No curated finding names dyskinesia with orofacial involvement, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A 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.
Definition from the Mondo Disease Ontology (MONDO:0800028), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Juvenile onset
HPO, annotations 2026-09-02
Features
25 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- ChoreaHPOHP:0002072
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- DystoniaHPOHP:0001332
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Limb hypertoniaHPOHP:0002509
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Facial myokymiaHPOHP:0000317
- 1 of 2 reported patients
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ADCY5HGNC:236
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: dyskinesia with orofacial involvement, autosomal dominant
- Also called
- dyskinesia, familial, with facial myokymiaFDFM