Familial cortical myoclonus
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
Familial cortical myoclonus is 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 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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial cortical myoclonus | |
| fr | Myoclonie corticale familiale | |
| de | Kortikaler Myoklonus, familiärer | |
| es | Mioclonía cortical familiar | |
| it | Mioclonia corticale familiare | |
| nl | Familiale corticale myoclonus | |
| pt | Mioclonia cortical, forma familiar | |
| pl | Rodzinny mioklonus korowy | |
| cs | Familiární kortikální myoklonus | |
| uk | Сімейний кортикальний міоклонус | |
| zh | 家族性皮质肌阵挛 | |
| tr | Ailesel kortikal miyoklonus |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614937 | E | validated | |
| ICD-10 | G25.3 | NTBT | attributed | validated |
| MONDO | 0013981 | E | validated | |
| MONDO | 13981 | E | validated | |
| UMLS | C3539916 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:306750Primary myoclonus
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NOL3 | Disease-causing germline mutation(s) in | Assessed | HGNC:7869 | ENSG00000140939 | 605235 | 16q22.1 | nucleolar protein 3 | 22926851[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 2292685[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2292685[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/319189
- This record as JSON: /data/d/319189.json