myoclonus, familial
Findings
No curated finding names myoclonus, familial yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most of cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent.
Definition from the Mondo Disease Ontology (MONDO:0013981), read 2026-09-29. CC BY 4.0.
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.
- NOL3HGNC:7869
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- Narrower terms (2)
Other names
3 names
Resolves to: myoclonus, familial
- Also called
- familial cortical myoclonusfamilial myoclonusmyoclonus, familial cortical