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EPM1
MCID: MYC080
MIFTS: 52
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Myoclonic Epilepsy of Unverricht and Lundborg (EPM1)
Categories:
Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Myoclonic Epilepsy of Unverricht and Lundborg:
Characteristics:Orphanet epidemiological data:58
progressive myoclonic epilepsy
Age of onset: Adolescent,Childhood,Infancy,Neonatal; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
onset 6-13 years three stages of disease progression - stage 1 (subclinical), stage 2 (early myoclonic), stage 3 (disabling myoclonic) incidence of 1 in 20,000 live births high frequency in finnish population HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Mental diseases
Orphanet: 58
Rare neurological diseases External Ids:
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KEGG :
36
Progressive myoclonic epilepsy (EPM) is a syndrome complex characterized by progressive myoclonus, cognitive impairment, ataxia, and other neurologic deficits. PME is a disease that afflicts previously normal children with ever-worsening and soon-intractable myoclonus and epilepsy, usually associated with neurodegeneration, and eventual dementia and early death. PME include Lafora disease, Unverricht-Lundborg disease, the neuronal ceroid lipofuscinoses, type I sialidosis (cherry-red spot myoclonus), Dentatorubro-pallidoluysian atrophy (DRPLA), and type III Gaucher disease. Almost all the autosomal recessively inherited PMEs are lysosomal diseases, with the exception of Lafora disease in which neither the accumulating material nor the gene products are in lysosomes. PME also occurs in various forms of mitochondrial encephalomyopathies, especially in myoclonic epilepsy with ragged-red fibers (MERRF).
MalaCards based summary : Myoclonic Epilepsy of Unverricht and Lundborg, also known as progressive myoclonic epilepsy, is related to progressive myoclonus epilepsy 10 and progressive myoclonus epilepsy 1a, and has symptoms including ataxia and myoclonus. An important gene associated with Myoclonic Epilepsy of Unverricht and Lundborg is CSTB (Cystatin B). The drugs Brivaracetam and Zonisamide have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and bone, and related phenotypes are ataxia and myoclonus NIH Rare Diseases : 52 Progressive myoclonus epilepsy (PME) refers to a group of inherited conditions involving the central nervous system and representing more than a dozen different diseases. These diseases share certain features, including a worsening of symptoms over time and the presence of both muscle contractions (myoclonus ) and seizures (epilepsy ). PME is different from myoclonic epilepsy. Other features include dementia , dystonia , and trouble walking or speaking. These rare disorders often get worse over time and sometimes are fatal. Many of these PME diseases begin in childhood or adolescence. OMIM : 56 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 is appears to be progressive only in adolescence, with dramatic worsening of myoclonus and ataxia in the first 6 years after onset. The disease stabilizes in early adulthood, and myoclonus and ataxia may even improve, and there is minimal to no cognitive decline (summary by Ramachandran et al., 2009). (254800) UniProtKB/Swiss-Prot : 73 Epilepsy, progressive myoclonic 1: 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. Wikipedia : 74 Progressive myoclonus epilepsy (PME) is a rare epilepsy syndrome caused by a variety of genetic... more... |
Human phenotypes related to Myoclonic Epilepsy of Unverricht and Lundborg:31 (show all 7)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:254800 310370UMLS symptoms related to Myoclonic Epilepsy of Unverricht and Lundborg:ataxia, myoclonus MGI Mouse Phenotypes related to Myoclonic Epilepsy of Unverricht and Lundborg:45
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Drugs for Myoclonic Epilepsy of Unverricht and Lundborg (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 20)
Interventional clinical trials:
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MalaCards organs/tissues related to Myoclonic Epilepsy of Unverricht and Lundborg:40
Brain,
Skin,
Bone,
Cortex,
Spinal Cord,
Thyroid,
Globus Pallidus
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Articles related to Myoclonic Epilepsy of Unverricht and Lundborg:(show top 50) (show all 343)
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Genes related to Myoclonic Epilepsy of Unverricht and Lundborg (4 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Myoclonic Epilepsy of Unverricht and Lundborg:6 (show top 50) (show all 503)
UniProtKB/Swiss-Prot genetic disease variations for Myoclonic Epilepsy of Unverricht and Lundborg:73
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Search
GEO
for disease gene expression data for Myoclonic Epilepsy of Unverricht and Lundborg.
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Cellular components related to Myoclonic Epilepsy of Unverricht and Lundborg according to GeneCards Suite gene sharing:
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