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.
Synonyms:
Progressive myoclonus epilepsy type 1
EPM1
Unverricht-Lundborg disease
ULD
This is just here as a test because I lose it
Term information
database
cross reference
- OMIM:254800 (E (Exact mapping: the two concepts are equivalent))
- MedDRA:10054895 (E (Exact mapping: the two concepts are equivalent))
- UMLS:C0751785 (E (Exact mapping: the two concepts are equivalent))
- MeSH:D020194 (E (Exact mapping: the two concepts are equivalent))
- OMIM:310370 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
- ICD-10:G40.3 (- NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet).)
- OMIM:612437 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
definition citation
- Orphanet
expertlink
- https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308
hasDbXref
- OMIM:612437
- MeSH:D020194
- MedDRA:10054895
- OMIM:310370
- OMIM:254800
- ICD-10:G40.3
- UMLS:C0751785
has age of onset
- http://www.orpha.net/ORDO/Orphanet_409946
- http://www.orpha.net/ORDO/Orphanet_409947
has birth prevalence range
- http://www.orpha.net/ORDO/Orphanet_409977
has inheritance
- http://www.orpha.net/ORDO/Orphanet_409930
has point prevalence range
- http://www.orpha.net/ORDO/Orphanet_409977
notation
- ORPHA:308
part of
- http://www.orpha.net/ORDO/Orphanet_98261
- http://www.orpha.net/ORDO/Orphanet_611314
present in
- http://www.orpha.net/ORDO/Orphanet_410065