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Unverricht-Lundborg syndrome

Disease Summary
Associated Targets (3)
Tbio

3


GARD Rare
Mondo Description 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.
Uniprot Description An autosomal recessive disorder characterized by severe, stimulus-sensitive myoclonus and tonic-clonic seizures. The onset, occurring between 6 and 13 years of age, is characterized by convulsions. Myoclonus begins 1 to 5 years later. The twitchings occur predominantly in the proximal muscles of the extremities and are bilaterally symmetrical, although asynchronous. At first small, they become late in the clinical course so violent that the victim is thrown to the floor. Mental deterioration and eventually dementia develop.
Mondo Term and Equivalent IDs
MONDO:0009698:  Unverricht-Lundborg syndrome
GARD:0003876: 
MESH:D020194: 
Orphanet:308: 
SCTID:230423006: 
UMLS:C0751785: