Progressive myoclonic epilepsy type 9
Synonyms: PME type 9 · Progressive myoclonic epilepsy due to LMNB2 deficiency · Progressive myoclonus epilepsy type 9 · EPM9
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare, genetic, neurological disorder characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia leading to severe gait disturbances associated with normal to slightly diminished cognition. Scoliosis, diffuse muscle atrophy and subcutaneous fat loss, as well as developmental delay, may be associated. Brain MRI may reveal complete agenesis of the corpus callosum, ventriculomegaly, interhemispheric cysts, and simplified gyration (frontally).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive myoclonic epilepsy type 9 | PME type 9 · Progressive myoclonic epilepsy due to LMNB2 deficiency · Progressive myoclonus epilepsy type 9 · EPM9 |
| fr | Epilepsie myoclonique progressive type 9 | EMP type 9 · EPM9 · Epilepsie myoclonique progressive par déficit en LMNB2 · PME type 9 |
| de | Myoklonusepilepsie, progressive, Typ 9 | EPM9 · Myoklonusepilepsie, progressive, durch LMNB2-Mangel · PME Typ 9 |
| es | Epilepsia mioclónica progresiva tipo 9 | EMP tipo 9 · EMP9 · Epilepsia mioclónica progresiva por deficiencia de LMNB2 · Epilepsia progresiva con mioclonías tipo 9 |
| it | Epilessia mioclonica progressiva tipo 9 | |
| nl | Progressieve myoclonische epilepsie type 9 | EPM9 · PME type 9 · Progressieve myoclonische epilepsie door LMNB2-deficiëntie · Progressieve myoclonus epilepsie type 9 |
| pt | Epilepsia mioclónica progressiva, tipo 9 | |
| pl | Postępująca padaczka miokloniczna typu 9 | EPM9 · PME typu 9 · Postępująca padaczka miokloniczna spowodowana niedoborem LMNB2 |
| cs | Progresivní myoklonická epilepsie, typ 9 | EPM9 · PME typ 9 · Progresivní myoklonická epilepsie způsobená deficiencí LMNB2 |
| uk | Прогресуюча міоклонічна епілепсія, тип 9 | EPM9 · PME тип 9 · Прогресуюча міоклонічна епілепсія внаслідок дефіциту LMNB2 · Прогресуюча міоклонусна епілепсія типу 9 |
| zh | 进行性肌阵挛性癫痫9型 | LMNB2缺陷导致的进行性肌阵挛性癫痫 |
| tr | İlerleyici miyoklonik epilepsi tip 9 | EPM9 · PME tip 9 · İlerleyici miyoklonus epilepsi tip 9 · LMNB2 eksikliğine bağlı İlerleyici miyoklonik epilepsi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616540 | E | validated | |
| ICD-10 | G40.3 | NTBT | attributed | validated |
| MONDO | 0014685 | E | validated | |
| UMLS | C4225289 | 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:98261Progressive myoclonic epilepsy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LMNB2 | Disease-causing germline mutation(s) in | Assessed | HGNC:6638 | ENSG00000176619 | 150341 | 19p13.3 | lamin B2 | 25954030[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 25954030[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25954030[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/457265
- This record as JSON: /data/d/457265.json