Progressive myoclonic epilepsy type 8
Synonyms: EPM8 · PME type 8 · Progressive myoclonic epilepsy due to CERS1 deficiency · Progressive myoclonus epilepsy type 8
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood
- Status
- active
A rare, genetic, neurological disorder characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that may lead to dementia. EEG reveals progressive slowing of background activity and epileptic abnormalities and brain MRI shows cerebellar and brainstem atrophy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive myoclonic epilepsy type 8 | EPM8 · PME type 8 · Progressive myoclonic epilepsy due to CERS1 deficiency · Progressive myoclonus epilepsy type 8 |
| fr | Epilepsie myoclonique progressive type 8 | EMP type 8 · EPM8 · Epilepsie myoclonique progressive par déficit en CERS1 · PME type 8 |
| de | Myoklonusepilepsie, progressive, Typ 8 | EPM8 · Myoklonusepilepsie, progressive, durch CERS1-Mangel · PME Typ 8 |
| es | Epilepsia mioclónica progresiva tipo 8 | EMP tipo 8 · EPM8 · Epilepsia mioclónica progresiva por deficiencia de CERS1 · Epilepsia progresiva con mioclonías tipo 8 |
| it | Epilessia mioclonica progressiva, tipo 8 | EPM8 · Epilessia progressiva con mioclonie, da deficit di CERS1 · Epilessia progressiva con mioclonie, tipo 8 · PME, tipo 8 |
| nl | Progressieve myoclonische epilepsie type 8 | EPM8 · PME type 8 · Progressieve myoclonische epilepsie door CERS1-deficiëntie · Progressieve myoclonusepilepsie type 8 |
| pt | Epilepsia mioclónica progressiva devido a défice de CERS1 | |
| pl | Postępująca padaczka miokloniczna typu 8 | EPM8 · PME typu 8 · Postępująca padaczka miokloniczna z powodu niedoboru CERS1 |
| cs | Progresivní myklonická epilepsie, typ 8 | EPM8 · PME typ 8 · Progresivní myoklonická epilepsie, typ 8 · Progresivní myoklonická epilepsie způsobená deficitem CERS1 |
| uk | Прогресуюча міоклонічна епілепсія, тип 8 | EPM8 · PME тип 8 · Прогресуюча міоклонічна епілепсія внаслідок дефіциту CERS1 · Прогресуюча міоклонусна епілепсія типу 8 |
| zh | 进行性肌阵挛性癫痫8型 | CERS1缺乏导致的进行性肌阵挛性癫痫 |
| tr | İlerleyici miyoklonik epilepsi tip 8 | EPM8 · PME tip 8 · İlerleyici miyoklonus epilepsi tip 8 · CERS1 eksikliğine bağlı İlerleyici miyoklonik epilepsi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616230 | E | validated | |
| ICD-10 | G40.3 | NTBT | attributed | validated |
| ICD-11 | 8A61.41 | NTBT | attributed | validated |
| MONDO | 0014545 | E | validated | |
| UMLS | C5190825 | 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 (3):
- ORPHA:352306Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - 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 |
|---|---|---|---|---|---|---|---|---|
| CERS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:14253 | ENSG00000223802 | 606919 | 19p13.11 | ceramide synthase 1 | 24782409[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 24782409[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24782409[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/424027
- This record as JSON: /data/d/424027.json