Myoclonic epilepsy of unverricht and lundborg

Preferred Label : Myoclonic epilepsy of unverricht and lundborg;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : ULD; EPM1; Epilepsy, progressive myoclonic, 1a; Progressive myoclonic epilepsy; EPM1A; Baltic myoclonic epilepsy; PME; Epilepsy, progressive myoclonic, 1;

Description : Myoclonic epilepsy of Unverricht and Lundborg is an autosomal recessive disorder characterized by onset of neurodegeneration between 6 and 13 years of age. Although it is considered a progressive myoclonic epilepsy, it differs from other forms in that is appears to be progressive only in adolescence, with dramatic worsening of myoclonus and ataxia in the first 6 years after onset. The disease stabilizes in early adulthood, and myoclonus and ataxia may even improve, and there is minimal to no cognitive decline (summary by Ramachandran et al., 2009). - Genetic Heterogeneity of Progressive Myoclonic Epilepsy Progressive myoclonic epilepsy refers to a clinically and genetically heterogeneous group of neurodegenerative disorders, usually with debilitating symptoms, although severity varies. See also EPM1B (612437), caused by mutation in the PRICKLE1 gene (608500); Lafora disease (EPM2A/B; 254780), caused by mutation in either the EPM2A (607566) or the NHLRC1 (608072) gene; EPM3 (611726), caused by mutation in the KCTD7 gene (611725); EPM4 (254900), caused by mutation in the;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cystatin B gene (CSTB, 601145.0001);

Prefixed ID : #254800;

Details

Origin ID

254800;

UMLS CUI

C0751785;

Automatic exact mappings (from CISMeF team)
- CSTB wt Allele [NCIt concept]
- Generalized myoclonic seizure [HPO term]
- Myoclonic Epilepsy of Unverricht and Lundborg [NCIt concept]
- Myoclonic epilepsy, progressive [HPO term]
- Progressive myoclonic epilepsy [ORDO Disease]
- Progressive myoclonic epilepsy [ICD-11 Sub-sub category]
- Progressive myoclonic epilepsy (disorder) [SNOMED CT concept]
- Progressive myoclonic epilepsy type 1 [ICD-11 More detail]
- cystatin B [ORDO Gene]
- myoclonic epilepsies, progressive [MeSH Descriptor]
- myoclonic epilepsies, progressive [MeSH concept]
- posterior median eminence [UBERON concept]
- progressive myoclonic epilepsy [SNOMED Notion]
- progressive myoclonus epilepsy [DO Concept]
- progressive myoclonus epilepsy 1A [DO Concept]
- small business [MeSH Descriptor]
Currated CISMeF NLP mapping
- Baltic myoclonic epilepsy [MedDRA Preferred Term]
- Progressive myoclonic epilepsy type 1 [ORDO Disease]
- Unverricht Lundborg syndrome [Disease (Nov.)]
- Unverricht's syndrome [MedDRA LLT]
- Unverricht-Lundborg disease [MedDRA LLT]
- Unverricht-Lundborg syndrome [DO Concept]
- Unverricht-Lundborg syndrome [MeSH concept]
- Unverricht-Lundborg syndrome (disorder) [SNOMED CT concept]
- unverricht-lundborg syndrome [MeSH Descriptor]
DO Cross reference
- progressive myoclonus epilepsy 1A [DO Concept]
Genes related to phenotype
- Cystatin b [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Dementia [HPO term]
- Dysarthria [HPO term]
- EEG with polyspike wave complexes [HPO term]
- EEG with spike-wave complexes [HPO term]
- Generalized non-motor (absence) seizure [HPO term]
- Intellectual disability, mild [HPO term]
- Interictal epileptiform activity [HPO term]
- Juvenile onset [HPO term]
- Mental deterioration [HPO term]
- Mild mental deterioration [HPO term]
- Myoclonus [HPO term]
ORDO concept(s)
- Progressive myoclonic epilepsy type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Baltic myoclonic epilepsy [MedDRA Preferred Term]
- Myoclonic Epilepsy of Unverricht and Lundborg [NCIt concept]
- Progressive myoclonic epilepsy type 1 [ORDO Disease]
- Unverricht Lundborg syndrome [Disease (Nov.)]
- Unverricht's syndrome [MedDRA LLT]
- Unverricht-Lundborg disease [MedDRA LLT]
- Unverricht-Lundborg syndrome [MeSH concept]
- Unverricht-Lundborg syndrome [DO Concept]
- Unverricht-Lundborg syndrome (disorder) [SNOMED CT concept]
- unverricht-lundborg syndrome [MeSH Descriptor]

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