Hereditary geniospasm
Synonyms: Hereditary chin myoclonus · Hereditary chin-trembling · Familial trembling of the chin
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare genetic tremor disorder characterized by recurrent episodes of involuntary tremor of the chin and lower lip due to isolated myoclonus of the mentalis muscle. Patients may present more severe symptoms such as tongue biting and psychological distress. Even though neurological abnormalities are not associated, occasional involvement of sleep disorders and other facial muscles have been described. Sporadic cases were also reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary geniospasm | Hereditary chin myoclonus · Hereditary chin-trembling · Familial trembling of the chin |
| fr | Géniospasme héréditaire | Tremblement familial du menton · Tremblement héréditaire du menton |
| de | Geniospasmus, hereditärer | Familiäres Zittern des Kinns · Kinn-Myoklonus, hereditärer |
| es | Geniospasmo o espasmo mandibular | |
| it | Geniospasmo | |
| nl | Erfelijk geniospasme | Erfelijk kinbeven · Erfelijke myoclonus van kin · Familiale tremor van kin |
| pt | Geniospasmo hereditário | |
| pl | Dziedziczne drżenie mięśnia bródkowego | Dziedziczne drżenie brody · Dziedziczny mioklonus brody · Rodzinne drżenie brody |
| cs | Hereditární geniospasmus | Familiární třes brady · Dědičný myoklonus brady · Dědičný třes brady |
| uk | Спадковий геніоспазм | Сімейне тремтіння підборіддя · Спадковий міоклонус підборіддя · Спадкове тремтіння підборіддя |
| zh | 遗传性颏痉挛 | 遗传性颏震颤 |
| tr | Kalıtsal geniospazm | Kalıtsal çene miyoklonusu · Kalıtsal çene titremesi · Ailesel çene titremesi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 190100 | E | validated | |
| ICD-10 | G25.3 | NTBT | attributed | validated |
| MONDO | 0008588 | E | validated | |
| MeSH | C537682 | E | validated | |
| UMLS | C2931589 | E | validated | |
| GARD | 9501 | 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 (2):
- ORPHA:307061Rare genetic tremor disorder
rare genetic diseases - ORPHA:306712Rare tremor disorder
rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
7 annotations · validated 2021-09-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0012462 | Chin myoclonus | |
| Very frequent (99-80%) | ||
| HP:3000007 | Abnormality of mentalis muscle | |
| Occasional (29-5%) | ||
| HP:0012433 | Abnormal social behavior | |
| HP:0000178 | Abnormality of lower lip | |
| Excluded (0%) | ||
| HP:0002353 | EEG abnormality | |
| HP:0003457 | EMG abnormality | |
| HP:0002080 | Intention tremor | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 25829069[PMID]_26388646[PMID]_27117562[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/53372
- This record as JSON: /data/d/53372.json