Unverricht-Lundborg disease
http://www.orpha.net/ORDO/Orphanet_308
Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time.
Synonyms: PME type 1, Progressive myoclonic epilepsy type 1, Progressive myoclonus epilepsy type 1, ULD
Term info
database cross reference
- OMIM:254800 (E (exact mapping (the terms and the concepts are equivalent)))
- UMLS:C0751785 (E (exact mapping (the terms and the concepts are equivalent)))
- OMIM:612437 (BTNT (broader term maps to a narrower term))
- ICD-10:G40.3 (Attributed)
- ICD-10:G40.3 (NTBT (narrower term maps to a broader term))
- MedDRA:10054895 (E (exact mapping (the terms and the concepts are equivalent)))
- OMIM:310370 (BTNT (broader term maps to a narrower term))
- MeSH:D020194 (E (exact mapping (the terms and the concepts are equivalent)))
definition citation
orphanet
hasDbXref
OMIM:310370, MedDRA:10054895, UMLS:C0751785, MeSH:D020194, OMIM:254800, OMIM:612437, ICD-10:G40.3
notation
ORPHA:308
Term relations
Subclass of:
- malformation syndrome
- present_in some Finland and has_birth_prevalence_range some 1-9 / 100 000 and has_birth_prevalence_average_value value 5.0
- present_in some Europe and has_point_prevalence_range some 1-9 / 1 000 000
- has_age_of_onset some adolescent
- has_inheritance some autosomal recessive
- has_age_of_onset some childhood
- part_of some Progressive myoclonic epilepsy
- present_in some France and has_point_prevalence_range some 1-9 / 1 000 000 and has_point_prevalence_average_value value 0.2
- present_in some Finland and has_point_prevalence_range some 1-9 / 100 000 and has_point_prevalence_average_value value 4.0