ORPHA:501
Lafora disease
Synonyms: EPM2 · PME type 2 · Progressive myoclonic epilepsy type 2 · Progressive myoclonus epilepsy type 2
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood
- Status
- active
A rare, inherited, severe form of progressive myoclonus epilepsy characterized by drug-resistant epilepsy, myoclonus, and psychomotor deterioration affecting previously healthy children or adolescents.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lafora disease | EPM2 · PME type 2 · Progressive myoclonic epilepsy type 2 · Progressive myoclonus epilepsy type 2 |
| fr | Maladie de Lafora | EMP type 2 · EPM2 · Epilepsie myoclonique progressive type 2 · PME type 2 |
| de | Lafora-Krankheit | EPM2 · Epilepsie, myoklonische progressive, Typ 2 · PME Typ 2 · Progressive Myoklonus-Epilepsie Typ 2 |
| es | Enfermedad de Lafora | EMP tipo 2 · EPM2 · Epilepsia mioclónica progresiva tipo 2 · Epilepsia progresiva con mioclonías tipo 2 |
| it | Malattia di Lafora | EPM2 · Epilessia mioclonica progressiva, tipo 2 · PME, tipo 2 |
| nl | Ziekte van Lafora | EPM2 · PME type 2 · Progressieve myoclonische epilepsie type 2 · Progressieve myoclonusepilepsie type 2 |
| pt | Doença de Lafora | Epilepsia mioclónica progressiva tipo 2 |
| pl | Choroba ciałek Lafora | EPM2 · PME typu 2 · Postępująca padaczka miokloniczna typu 2 · Progressive myoclonus epilepsy type 2 |
| cs | Laforova nemoc | EPM2 · PME, typ 2 · Progresivní myoklonická epilepsie Laforova typu · Progresivní myoklonická epilepsie, typ 2 |
| uk | Хвороба Лафора | EPM2 · PME тип 2 · Прогресуюча міоклонічна епілепсія типу 2 · Прогресуюча міоклонусна епілепсія типу 2 |
| zh | Lafora病 | 进行性肌阵挛性癫痫2型 |
| tr | Lafora hastalığı | EPM2 · PME tip 2 · İlerleyici miyoklonik epilepsi tip 2 · İlerleyici miyoklonus epilepsi tip 2 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 254780 | BTNT | validated | |
| OMIM | 620681 | BTNT | validated | |
| ICD-10 | G40.3 | NTBT | attributed | validated |
| ICD-11 | 8A61.41 | NTBT | index | validated |
| MONDO | 0009697 | E | validated | |
| MeSH | D020192 | E | validated | |
| UMLS | C0751783 | E | validated | |
| GARD | 8214 | E | validated | |
| MedDRA | 10054030 | 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 (1):
- ORPHA:98261Progressive myoclonic epilepsy
rare genetic diseases; rare neurological diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EPM2A | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3413 | ENSG00000112425 | 607566 | 6q24.3 | EPM2A glucan phosphatase, laforin | 20301563[PMID]_22047982[PMID]_22669944[PMID] |
| NHLRC1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:21576 | ENSG00000187566 | 608072 | 6p22.3 | NHL repeat containing E3 ubiquitin protein ligase 1 | 20301563[PMID]_22047982[PMID]_22669944[PMID] |
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.1 / 100 000 | France | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
| Cases/families | 300 cases | Worldwide | Case(s) | Validated | 25217339[PMID] | |
| Point prevalence | 1-9 / 1 000 000 | 0.02 / 100 000 | Worldwide | Value and class | Validated | 29489177[PMID]_ORPHANET |
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
35 annotations · validated 2019-04-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0100318 | Lafora bodies | |
| Very frequent (99-80%) | ||
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0001251 | Ataxia | |
| HP:0001289 | Confusion | |
| HP:0000726 | Dementia | |
| HP:0000716 | Depression | |
| HP:0001260 | Dysarthria | |
| HP:0000712 | Emotional lability | |
| HP:0025357 | Erratic myoclonus | |
| HP:0001288 | Gait disturbance | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0001312 | Giant somatosensory evoked potentials | |
| HP:0002315 | Headache | |
| HP:0002521 | Hypsarrhythmia | |
| HP:0002540 | Inability to walk | |
| HP:0001268 | Mental deterioration | |
| HP:0040288 | Nasogastric tube feeding | |
| HP:0002100 | Recurrent aspiration pneumonia | |
| HP:0001257 | Spasticity | |
| HP:0002133 | Status epilepticus | |
| HP:0002367 | Visual hallucinations | |
| Occasional (29-5%) | ||
| HP:0010819 | Atonic seizure | |
| HP:0007270 | Atypical absence seizure | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0007334 | Bilateral tonic-clonic seizure with focal onset | |
| HP:0012444 | Brain atrophy | |
| HP:0002384 | Focal impaired awareness seizure | |
| HP:0011165 | Focal sensory seizure with visual features | |
| HP:0007359 | Focal-onset seizure | |
| HP:0002121 | Generalized non-motor (absence) seizure | |
| HP:0001399 | Hepatic failure | |
| HP:0001336 | Myoclonus | |
| HP:0007537 | Severe photosensitivity | |
| HP:0002360 | Sleep abnormality | |
| HP:0031358 | Vegetative state | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 30143794[PMID]_15781812[PMID]_20301563[PMID]_28800070[PMID]_30638256[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/501
- This record as JSON: /data/d/501.json