ORPHA:308
Progressive myoclonic epilepsy type 1
Synonyms: EPM1 · Progressive myoclonus epilepsy type 1 · ULD · Unverricht-Lundborg disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood
- Status
- active
A rare progressive myoclonic epilepsy (PME) disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive myoclonic epilepsy type 1 | EPM1 · Progressive myoclonus epilepsy type 1 · ULD · Unverricht-Lundborg disease |
| fr | Epilepsie myoclonique progressive type 1 | EPM1 · MUL · Maladie de Unverricht-Lundborg |
| de | Epilepsie, myoklonische progressive, Typ 1 | EPM1 · Myoklonusepilepsie, progressive. Typ 1 · ULD · Unverricht-Lundborg-Krankheit |
| es | Epilepsia mioclónica progresiva tipo 1 | EMP tipo 1 · Enfermedad de Unverricht-Lundborg · Epilepsia progresiva con mioclonías tipo 1 · ULD |
| it | Epilessia mioclonica progressiva tipo 1 | EPM1 · Epilessia mioclonica progressiva tipo 1 · Malattia di Unverricht-Lundborg · ULD |
| nl | Progressieve myoclonische epilepsie type 1 | EPM1 · Progressieve myoclonusepilepsie type 1 · ULD · Ziekte van Unverricht-Lundborg |
| pt | Epilepsia mioclónica progressiva tipo 1 | DUL · Doença de Unverricht-Lundborg |
| pl | Choroba Unverrichta i Lundborga | PME typu 1 · Postępująca padaczka miokloniczna typu 1 · Postępująca padaczka miokloniczna typu 1 · ULD |
| cs | Unverrichtova-Lundborgova nemoc | PME typ 1 · Progresivní myoklonická epilepsie, typ 1 · ULD · Unverricht-Lundborgova nemoc |
| uk | Прогресуюча міоклонічна епілепсія, тип 1 | EPM1 · Прогресуюча міоклонусна епілепсія типу 1 · ULD · Хвороба Унверріхта-Лундборга |
| zh | Unverricht-Lundborg病 | 进行性肌阵挛性癫痫1型 |
| tr | Unverricht-Lundborg hastalığı | ULD · PME tip 1 · İlerleyici miyoklonik epilepsi tip 1 · İlerleyici miyoklonus epilepsi tip 1 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 254800 | E | validated | |
| OMIM | 310370 | BTNT | validated | |
| OMIM | 612437 | BTNT | validated | |
| ICD-10 | G40.3 | NTBT | attributed | validated |
| ICD-11 | 8A61.41 | NTBT | index | validated |
| MONDO | 0009698 | E | validated | |
| MeSH | D020194 | E | validated | |
| UMLS | C0751785 | E | validated | |
| GARD | 3876 | E | validated | |
| MedDRA | 10054895 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:98261Progressive myoclonic epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CSTB | Disease-causing germline mutation(s) in | Assessed | HGNC:2482 | ENSG00000160213 | 601145 | 21q22.3 | cystatin B | 9012407[PMID]_20301321[PMID] |
| PRICKLE1 | Disease-causing germline mutation(s) in | Assessed | HGNC:17019 | ENSG00000139174 | 608500 | 12q12 | prickle planar cell polarity protein 1 | 18976727[PMID] |
| SCARB2 | Disease-causing germline mutation(s) in | Assessed | HGNC:1665 | ENSG00000138760 | 602257 | 4q21.1 | scavenger receptor class B member 2 | 19847901[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 5 / 100 000 | Finland | Value and class | Validated | 20301321[PMID] |
| Point prevalence | 1-9 / 100 000 | 2 / 100 000 | Finland | Value and class | Validated | 20301321[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.
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HPO phenotypes
10 annotations · validated 2017-03-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002392 | EEG with polyspike wave complexes | |
| HP:0002070 | Limb ataxia | |
| HP:0007000 | Morning myoclonic jerks | |
| HP:0001336 | Myoclonus | |
| Frequent (79-30%) | ||
| HP:0001251 | Ataxia | |
| HP:0001260 | Dysarthria | |
| HP:0002080 | Intention tremor | |
| Occasional (29-5%) | ||
| HP:0000992 | Cutaneous photosensitivity | |
| HP:0000726 | Dementia | |
| HP:0001249 | Intellectual disability | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 25667885[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/308
- This record as JSON: /data/d/308.json