Early-onset progressive encephalopathy with migrant continuous myoclonus
historical
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Childhood
- Status
- historical
A rare infantile epilepsy syndrome characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. The focal continuous myoclonus (lasting from dozens of minutes to hours) is observed in the first months of life. During disease progression, prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occur and eventually progressive encephalopathy with hypotonia and ataxia is observed. All patients reported to have cortical atrophy. There have been no further descriptions in the literature since 1996.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Early-onset progressive encephalopathy with migrant continuous myoclonus | |
| fr | Encéphalopathie progressive précoce avec crises myocloniques migrantes et continues | |
| de | Früh beginnende progressive Enzephalopathie mit wanderndem kontinuierlichem Myoklonus | Epilepsie der frühen Kindheit mit migratorischen fokalen Anfällen |
| es | Encefalopatía progresiva de inicio precoz con miclonías migratorias continuas | |
| it | Epilessia con crisi parziali migranti dei neuroni | |
| nl | Vroeg aanvangende progressieve encefalopathie met migrerende continue myoclonus | |
| pt | Epilepsia progressiva de início precoce com mioclonias contínuas migratórias | |
| pl | Padaczka dziecięca z migrującymi napadami częściowymi | |
| cs | Migrující fokální epilepsie u kojenců | |
| uk | Рання прогресуюча енцефалопатія з мігруючим безперервним міоклонусом | |
| zh | 早发进行性脑病伴不定向型肌痉挛 | |
| tr | Gezici devamlı miyoklonus ile seyreden erken-başlangıçlı ilerleyici ensefalopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G40.4 | NTBT | attributed | validated |
| MONDO | 0016026 | E | validated | |
| MONDO | 16026 | E | validated | |
| UMLS | C4510564 | E | validated | |
| GARD | 2995 | 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:693802Neonatal/infantile-onset epilepsy syndrome
rare genetic diseases; rare neurological 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 | 3 cases | Worldwide | Case(s) | Validated | 8737801[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8737801[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/1943
- This record as JSON: /data/d/1943.json