MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG

General Information (adopted from Orphanet):

Synonyms, Signs: EPILEPSY, PROGRESSIVE MYOCLONIC 1
BALTIC MYOCLONIC EPILEPSY
EPILEPSY, PROGRESSIVE MYOCLONIC 1A
PROGRESSIVE MYOCLONIC EPILEPSY
EPM1
ULD
EPM1A
PME
Number of Symptoms 15
OrphanetNr:
OMIM Id: 254800
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
2
(HPO:0011147) Typical absence seizures 33 / 7739
3
(HPO:0002121) Absence seizures 62 / 7739
4
(HPO:0001251) Ataxia 413 / 7739
5
(HPO:0001260) Dysarthria 329 / 7739
6
(OMIM) Visual blackouts (stage 1) 1 / 7739
7
(OMIM) EEG - alpha abolished, continuous spike waves, intense myoclonus on photic stimulation (stage 3) 1 / 7739
8
(OMIM) Stimulation sensitive segmental myoclonus (stage 2) 1 / 7739
9
(OMIM) EEG - alpha slowing, 4-6 Hz spike waves, myoclonus on photic stimulation (stage 2) 1 / 7739
10
(OMIM) Intermittent wheelchair dependence (stage 3) 1 / 7739
11
(OMIM) Minor motor impairment (stage 2) 1 / 7739
12
(OMIM) Action myoclonus 3 / 7739
13
(OMIM) EEG - polyspike on photic stimulation (stage 1) 1 / 7739
14
(OMIM) Mild mental deterioration 1 / 7739
15
(OMIM) Stimulation sensitive generalized myoclonus (stage 3) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Unverricht (1891, 1895) and Lundborg (1903) first reported a type of progressive myoclonic epilepsy common in Finland. Onset of the disorder occurred around age 10 years, and was characterized by progressive myoclonus resulting in incapacitation, but only mild ...
Molecular genetics OMIM Pennacchio et al. (1996) used a combination of genetic and physical mapping information to search systematically for the causative gene for EPM1. Several cDNAs identified with a bacterial artificial chromosome (BAC) clone encoded a previously described protein, cystatin ...
Population genetics OMIM Koskiniemi et al. (1980) estimated that over 100 cases in 70 sibships had been identified in Finland. Fewer cases had been found in all the rest of the world. The incidence in Finland is about 1 in 20,000. ...