Unverricht-Lundborg syndrome
Findings
No curated finding names Unverricht-Lundborg syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0009698), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
15 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- MyoclonusHPOHP:0001336
- 42 of 42 reported patients
- Very frequent (80% to 99% of cases)
- Bilateral tonic-clonic seizureHPOHP:0002069
- 31 of 32 reported patients
- EEG with polyspike wave complexesHPOHP:0002392
- Very frequent (80% to 99% of cases)
- Limb ataxiaHPOHP:0002070
- Very frequent (80% to 99% of cases)
- Morning myoclonic jerksHPOHP:0007000
- Very frequent (80% to 99% of cases)
- AtaxiaHPOHP:0001251
- 2 of 3 reported patients
- Frequent (30% to 79% of cases)
Show the remaining 3
- DementiaHPOHP:0000726
- 1 of 3 reported patients
- Occasional (5% to 29% of cases)
- Intellectual disabilityHPOHP:0001249
- Occasional (5% to 29% of cases)
- Mild intellectual disabilityHPOHP:0001256
- 1 of 3 reported patients
Genes
3 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CSTBHGNC:2482
- Definitive · ClinGen · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
- PRICKLE1HGNC:17019
- Supportive · Orphanet · Autosomal recessive · 2021
- SCARB2HGNC:1665
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: Unverricht-Lundborg syndrome
- Also called
- epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)PME type 1progressive myoclonic epilepsy type 1progressive myoclonus epilepsy type 1ULDUnverricht-Lundborg disease