Myoclonic epilepsy of lafora 1

Preferred Label : Myoclonic epilepsy of lafora 1;

Symbol : MELF1;

CISMeF acronym : EPM2A; EPM2B; EPM2; LBD; MELF;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lafora disease; Lafora body disease; Epilepsy, progressive myoclonic, 2a; MELF; LBD; EPM2A; EPM2; Lafora disease 1;

Description : The Lafora type of progressive myoclonic epilepsy is an autosomal recessive disorder characterized by insidious onset of progressive neurodegeneration between 8 and 18 years of age. Initial features can include headache, difficulties in school work, myoclonic jerks, generalized seizures, and often visual hallucination. The myoclonus, seizures, and hallucinations gradually worsen and become intractable. This is accompanied by progressive cognitive decline, resulting in dementia. About 10 years after onset, affected individuals are in near-continuous myoclonus with absence seizures, frequent generalized seizures, and profound dementia or a vegetative state. Histologic studies of multiple tissues, including brain, muscle, liver, and heart show intracellular Lafora bodies, which are dense accumulations of malformed and insoluble glycogen molecules, termed polyglucosans (review by Ramachandran et al., 2009). For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the malin gene (NHLRC1, 608072.0001); Caused by mutation in the laforin gene (EPM2A, 607566.0001);

Laboratory abnormalities : Intracellular PAS-positive polyglucosan inclusion bodies ('Lafora' bodies) can be found in various tissues (brain, liver, muscle, heart, skin);

Prefixed ID : #254780;

Details

Origin ID

254780;

UMLS CUI

C5848203;

Automatic exact mappings (from CISMeF team)
- EPM2A glucan phosphatase, laforin [ORDO Gene]
- NHL repeat containing E3 ubiquitin protein ligase 1 [ORDO Gene]
- epilepsy, progressive myoclonic 2B [MeSH Supplementary Concept]
- epilepsy, progressive myoclonic 2B [MeSH concept]
- lewy body dementia [MedlinePlus Topic]
Currated CISMeF NLP mapping
- Lafora Disease [NCIt concept]
- Lafora disease [Disease (Nov.)]
- Lafora disease [DO Concept]
- Lafora disease [ORDO Disease]
- Lafora disease (disorder) [SNOMED CT concept]
- Lafora's disease [MedDRA LLT]
- Lafora's myoclonic epilepsy [MedDRA Preferred Term]
- Progressive myoclonic epilepsy type 2 [ICD-11 More detail]
- lafora disease [MeSH Descriptor]
- lafora disease [MeSH concept]
- progressive myoclonic epilepsy [SNOMED Notion]
DO Cross reference
- Lafora disease [DO Concept]
Genes related to phenotype
- Epm2a glucan phosphatase, laforin [OMIM gene]
HPO term(s)
- Apraxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Bilateral tonic-clonic seizure with focal onset [HPO term]
- Cutaneous photosensitivity [HPO term]
- Dementia [HPO term]
- Focal sensory seizure with visual features [HPO term]
- Gait disturbance [HPO term]
- Generalized myoclonic seizure [HPO term]
- Generalized non-motor (absence) seizure [HPO term]
- Hepatic failure [HPO term]
- Heterogeneous [HPO term]
- Lafora bodies [HPO term]
- Myoclonic epilepsy, progressive [HPO term]
- Myoclonus [HPO term]
- Progressive neurologic deterioration [HPO term]
- Psychosis [HPO term]
- Rapidly progressive [HPO term]
- Simple partial occipital seizures [HPO term]
- Simple partial occipital seizures [HPO term]
- Visual hallucinations [HPO term]
- Visual loss [HPO term]
ORDO concept(s)
- Lafora disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lafora Disease [NCIt concept]
- Lafora disease [ORDO Disease]
- Lafora disease [DO Concept]
- Lafora disease [Disease (Nov.)]
- Lafora disease (disorder) [SNOMED CT concept]
- Lafora's disease [MedDRA LLT]
- Lafora's myoclonic epilepsy [MedDRA Preferred Term]
- lafora disease [MeSH Descriptor]
- lafora disease [MeSH concept]

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