Myoclonus-cerebellar ataxia-deafness syndrome
historical
Synonyms: Myoclonus-cerebellar ataxia-hearing loss syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- historical
A rare genetic developmental defect during embryogenesis characterized by progressive childhood/early adulthood-onset sensorineural hearing loss (which may be bilateral), adolescence-onset myoclonus, provoked by light and bright colors and cerebellar ataxia (manifests as gait instability, and intention tremor). Generalized tonic-clonic seizures may also be present. There have been no further descriptions in the literature since 1984.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Myoclonus-cerebellar ataxia-deafness syndrome | Myoclonus-cerebellar ataxia-hearing loss syndrome |
| fr | Syndrome de myoclonie-ataxie cérébelleuse-surdité | |
| de | Myoklonie-zerebelläre Ataxie-Taubheit-Syndrom | |
| es | Síndrome de mioclonías-ataxia cerebelosa-sordera | Síndrome de mioclonías-ataxia cerebelosa-hipoacusia |
| it | Sindrome mioclonia-atassia cerebellare-sordità | |
| nl | Myoclonus - cerebellaire ataxie - doofheid-syndroom | Myoclonus - cerebellaire ataxie - gehoorverlies-syndroom |
| pt | Síndrome de mioclonia-ataxia cerebelosa-surdez | |
| pl | Zespół mioklonii, ataksji możdżkowej i głuchoty | = en |
| cs | Syndrom zahrnující myoklonus, cerebelární ataxii a hluchotu | = en |
| uk | Синдром міоклонус-мозочкова атаксія-глухота | Синдром міоклонус-мозочкової атаксії-туговухості |
| zh | 肌阵挛-小脑性共济失调-耳聋综合征 | 肌阵挛-小脑性共济失调-耳聋综合征 |
| tr | Miyoklonus-serebellar ataksi-sağırlık sendromu | Miyoklonus-serebellar ataksi-işitme kaybı sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 159800 | E | validated | |
| ICD-10 | G11.1 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0008043 | E | validated | |
| UMLS | C4518566 | E | validated | |
| GARD | 3873 | 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:183518Hereditary ataxia
rare genetic diseases; rare neurological diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 5698045[PMID]_6537856[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_5698045[PMID]_6537856[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
10 annotations · validated 2018-03-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002522 | Areflexia of lower limbs | |
| HP:0008619 | Bilateral sensorineural hearing impairment | |
| HP:0001260 | Dysarthria | |
| HP:0003445 | EMG: neuropathic changes | |
| HP:0003700 | Generalized amyotrophy | |
| HP:0002080 | Intention tremor | |
| HP:0001336 | Myoclonus | |
| HP:0002073 | Progressive cerebellar ataxia | |
| HP:0007240 | Progressive gait ataxia | |
| HP:0007141 | Sensorimotor neuropathy | |
Annotation source: 2614456[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2589
- This record as JSON: /data/d/2589.json