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Unverricht-Lundborg syndrome(EPM1; PME; EPM1A)

MedGen UID:
155923
Concept ID:
C0751785
Disease or Syndrome
Synonyms: Epilepsy, progressive myoclonic type 1; EPILEPSY, PROGRESSIVE MYOCLONIC, 1A; Epilepsy, progressive myoclonus 1; Myoclonic epilepsy of Unverricht and Lundborg; Myoclonus progressive epilepsy of Unverricht and Lundborg; Progressive myoclonus epilepsy baltic myoclonic epilepsy; Unverricht-Lundborg Disease
SNOMED CT: Unverricht-Lundborg syndrome (230423006); Unverricht-Lundborg disease (230423006); Baltic myoclonus epilepsy (230423006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): CSTB (21q22.3)
 
Monarch Initiative: MONDO:0009698
OMIM®: 254800
Orphanet: ORPHA308

Disease characteristics

Excerpted from the GeneReview: Progressive Myoclonic Epilepsy Type 1
Progressive myoclonic epilepsy type 1(EPM1) is a neurodegenerative disorder characterized by onset from age six to 15 years, stimulus-sensitive myoclonus, and tonic-clonic epileptic seizures. Some years after the onset, ataxia, incoordination, intentional tremor, and dysarthria develop. Individuals with EPM1 are cognitively mostly within the normal range, but show emotional lability and depression. The epileptic seizures are usually well controlled by antiseizure medications, but the myoclonic jerks are progressive, action activated, and treatment resistant, and can be severely disabling. [from GeneReviews]
Authors:
Anna-Elina Lehesjoki  |  Reetta Kälviäinen   view full author information

Additional descriptions

From 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 it 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). Genetic Heterogeneity of Progressive Myoclonic Epilepsy Progressive myoclonic epilepsy refers to a clinically and genetically heterogeneous group of neurodegenerative disorders, usually with debilitating symptoms, although severity varies. See also EPM1B (612437), caused by mutation in the PRICKLE1 gene (608500); Lafora disease (EPM2A/B; 254780), caused by mutation in either the EPM2A (607566) or the NHLRC1 (608072) gene; EPM3 (611726), caused by mutation in the KCTD7 gene (611725); EPM4 (254900), caused by mutation in the SCARB2 gene (602257); EPM6 (614018), caused by mutation in the GOSR2 gene (604027); EPM7 (616187), caused by mutation in the KCNC1 gene (176258); EPM8 (616230), caused by mutation in the CERS1 gene (606919); EPM9 (616540), caused by mutation in the LMNB2 gene (150341); EPM10 (616640), caused by mutation in the PRDM8 gene (616639); EPM11 (618876), caused by mutation in the SEMA6B gene (608873); and EPM12 (619191), caused by mutation in the SLC7A6OS gene (619192). A form of progressive myoclonic epilepsy, formerly designated EPM5, is included in 607459 with the primary designation of spinocerebellar ataxia with epilepsy (SCAE). Other disorders characterized by progressive myoclonic epilepsy include the neuronal ceroid lipofuscinoses (see, e.g., CLN1 (256730); sialidosis (256550); MERFF (545000); and DRPLA (125370), among others (reviews by Ramachandran et al., 2009 and de Siqueira, 2010).)  http://www.omim.org/entry/254800
From MedlinePlus Genetics
Unverricht-Lundborg disease is a rare inherited form of epilepsy. Affected individuals usually begin showing signs and symptoms of the disorder between the ages of 6 and 15.\n\nUnverricht-Lundborg disease is classified as a type of progressive myoclonus epilepsy. People with this disorder experience episodes of involuntary muscle jerking or twitching (myoclonus) that increase in frequency and severity over time. Episodes of myoclonus may be brought on by physical exertion, stress, light, or other stimuli. Within 5 to 10 years, the myoclonic episodes may become severe enough to interfere with walking and other everyday activities.\n\nAffected individuals also usually have seizures involving loss of consciousness, muscle rigidity, and convulsions (tonic-clonic or grand mal seizures). Like the myoclonic episodes, these may increase in frequency over several years but may be controlled with treatment. After several years of progression, the frequency of seizures may stabilize or decrease.\n\nEventually people with Unverricht-Lundborg disease may develop problems with balance and coordination (ataxia), involuntary rhythmic shaking called intention tremor because it worsens during movement, difficulty speaking (dysarthria), depression, and a slow, mild decline in intellectual functioning.\n\nPeople with Unverricht-Lundborg disease typically live into adulthood. Depending on the severity of the condition and a person's response to treatment, life expectancy may be normal.  https://medlineplus.gov/genetics/condition/unverricht-lundborg-disease

Clinical features

From HPO
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Myoclonus
MedGen UID:
10234
Concept ID:
C0027066
Sign or Symptom
Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
Mental deterioration
MedGen UID:
66713
Concept ID:
C0234985
Mental or Behavioral Dysfunction
Loss of previously present mental abilities, generally in adults.
Generalized tonic-clonic seizures
MedGen UID:
141670
Concept ID:
C0494475
Disease or Syndrome
A generalized motor seizure is a type of generalized-onset seizure with predominantly motor (involving musculature) signs. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.
Absence seizures
MedGen UID:
1385688
Concept ID:
C4316903
Disease or Syndrome
A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVUnverricht-Lundborg syndrome
Follow this link to review classifications for Unverricht-Lundborg syndrome in Orphanet.

Recent clinical studies

Etiology

Sipilä JOT, Hyppönen J, Kytö V, Kälviäinen R
Neurology 2020 Dec 8;95(23):e3117-e3123. Epub 2020 Sep 17 doi: 10.1212/WNL.0000000000010911. PMID: 32943486Free PMC Article
Canafoglia L, Ferlazzo E, Michelucci R, Striano P, Magaudda A, Gambardella A, Pasini E, Belcastro V, Riguzzi P, Fanella M, Granata T, Beccaria F, Trentini C, Bianchi A, Aguglia U, Panzica F, Franceschetti S
Neurology 2017 Oct 17;89(16):1691-1697. Epub 2017 Sep 20 doi: 10.1212/WNL.0000000000004518. PMID: 28931642
Nigri A, Visani E, Bertolino N, Nanetti L, Mariotti C, Panzeri M, Bruzzone MG, Franceschetti S, Canafoglia L
Brain Topogr 2017 May;30(3):380-389. Epub 2016 Oct 26 doi: 10.1007/s10548-016-0534-y. PMID: 27785699
Gargouri-Berrechid A, Nasri A, Kacem I, Sidhom Y, Abdelkefi I, Hizem Y, Ben Djebrara M, Gouider R
Neurophysiol Clin 2016 Apr;46(2):119-24. Epub 2016 May 4 doi: 10.1016/j.neucli.2016.03.003. PMID: 27157382
Hyppönen J, Äikiä M, Joensuu T, Julkunen P, Danner N, Koskenkorva P, Vanninen R, Lehesjoki AE, Mervaala E, Kälviäinen R
Neurology 2015 Apr 14;84(15):1529-36. Epub 2015 Mar 13 doi: 10.1212/WNL.0000000000001466. PMID: 25770194

Diagnosis

Kim KH, Song JS, Park CW, Ki CS, Heo K
Yonsei Med J 2018 Aug;59(6):798-800. doi: 10.3349/ymj.2018.59.6.798. PMID: 29978618Free PMC Article
Canafoglia L, Ferlazzo E, Michelucci R, Striano P, Magaudda A, Gambardella A, Pasini E, Belcastro V, Riguzzi P, Fanella M, Granata T, Beccaria F, Trentini C, Bianchi A, Aguglia U, Panzica F, Franceschetti S
Neurology 2017 Oct 17;89(16):1691-1697. Epub 2017 Sep 20 doi: 10.1212/WNL.0000000000004518. PMID: 28931642
Gargouri-Berrechid A, Nasri A, Kacem I, Sidhom Y, Abdelkefi I, Hizem Y, Ben Djebrara M, Gouider R
Neurophysiol Clin 2016 Apr;46(2):119-24. Epub 2016 May 4 doi: 10.1016/j.neucli.2016.03.003. PMID: 27157382
Cheng-Hakimian A
Neurodiagn J 2014 Jun;54(2):187-92. PMID: 25080777
Franceschetti S, Michelucci R, Canafoglia L, Striano P, Gambardella A, Magaudda A, Tinuper P, La Neve A, Ferlazzo E, Gobbi G, Giallonardo AT, Capovilla G, Visani E, Panzica F, Avanzini G, Tassinari CA, Bianchi A, Zara F; Collaborative LICE study group on PMEs.
Neurology 2014 Feb 4;82(5):405-11. Epub 2014 Jan 2 doi: 10.1212/WNL.0000000000000077. PMID: 24384641Free PMC Article

Therapy

Kim KH, Song JS, Park CW, Ki CS, Heo K
Yonsei Med J 2018 Aug;59(6):798-800. doi: 10.3349/ymj.2018.59.6.798. PMID: 29978618Free PMC Article
Canafoglia L, Ferlazzo E, Michelucci R, Striano P, Magaudda A, Gambardella A, Pasini E, Belcastro V, Riguzzi P, Fanella M, Granata T, Beccaria F, Trentini C, Bianchi A, Aguglia U, Panzica F, Franceschetti S
Neurology 2017 Oct 17;89(16):1691-1697. Epub 2017 Sep 20 doi: 10.1212/WNL.0000000000004518. PMID: 28931642
Crespel A, Gelisse P, Tang NP, Genton P
Epilepsia 2017 Apr;58(4):543-547. Epub 2017 Feb 6 doi: 10.1111/epi.13662. PMID: 28166365
Gargouri-Berrechid A, Nasri A, Kacem I, Sidhom Y, Abdelkefi I, Hizem Y, Ben Djebrara M, Gouider R
Neurophysiol Clin 2016 Apr;46(2):119-24. Epub 2016 May 4 doi: 10.1016/j.neucli.2016.03.003. PMID: 27157382
Cheng-Hakimian A
Neurodiagn J 2014 Jun;54(2):187-92. PMID: 25080777

Prognosis

Sipilä JOT, Hyppönen J, Kytö V, Kälviäinen R
Neurology 2020 Dec 8;95(23):e3117-e3123. Epub 2020 Sep 17 doi: 10.1212/WNL.0000000000010911. PMID: 32943486Free PMC Article
Canafoglia L, Ferlazzo E, Michelucci R, Striano P, Magaudda A, Gambardella A, Pasini E, Belcastro V, Riguzzi P, Fanella M, Granata T, Beccaria F, Trentini C, Bianchi A, Aguglia U, Panzica F, Franceschetti S
Neurology 2017 Oct 17;89(16):1691-1697. Epub 2017 Sep 20 doi: 10.1212/WNL.0000000000004518. PMID: 28931642
Kobayashi K, Hitomi T, Matsumoto R, Kondo T, Kawamata J, Matsuhashi M, Hashimoto S, Ikeda H, Koide Y, Inoue Y, Takahashi R, Ikeda A
Seizure 2014 Oct;23(9):746-50. Epub 2014 Jun 25 doi: 10.1016/j.seizure.2014.06.002. PMID: 25023721
Franceschetti S, Michelucci R, Canafoglia L, Striano P, Gambardella A, Magaudda A, Tinuper P, La Neve A, Ferlazzo E, Gobbi G, Giallonardo AT, Capovilla G, Visani E, Panzica F, Avanzini G, Tassinari CA, Bianchi A, Zara F; Collaborative LICE study group on PMEs.
Neurology 2014 Feb 4;82(5):405-11. Epub 2014 Jan 2 doi: 10.1212/WNL.0000000000000077. PMID: 24384641Free PMC Article
Cohen NR, Hammans SR, Macpherson J, Nicoll JA
Acta Neuropathol 2011 Mar;121(3):421-7. Epub 2010 Aug 19 doi: 10.1007/s00401-010-0738-2. PMID: 20721566

Clinical prediction guides

Canafoglia L, Ferlazzo E, Michelucci R, Striano P, Magaudda A, Gambardella A, Pasini E, Belcastro V, Riguzzi P, Fanella M, Granata T, Beccaria F, Trentini C, Bianchi A, Aguglia U, Panzica F, Franceschetti S
Neurology 2017 Oct 17;89(16):1691-1697. Epub 2017 Sep 20 doi: 10.1212/WNL.0000000000004518. PMID: 28931642
Crespel A, Gelisse P, Tang NP, Genton P
Epilepsia 2017 Apr;58(4):543-547. Epub 2017 Feb 6 doi: 10.1111/epi.13662. PMID: 28166365
Hyppönen J, Äikiä M, Joensuu T, Julkunen P, Danner N, Koskenkorva P, Vanninen R, Lehesjoki AE, Mervaala E, Kälviäinen R
Neurology 2015 Apr 14;84(15):1529-36. Epub 2015 Mar 13 doi: 10.1212/WNL.0000000000001466. PMID: 25770194
Danner N, Julkunen P, Hyppönen J, Niskanen E, Säisänen L, Könönen M, Koskenkorva P, Vanninen R, Kälviäinen R, Mervaala E
Mov Disord 2013 Nov;28(13):1860-7. Epub 2013 Aug 7 doi: 10.1002/mds.25615. PMID: 23925991
Suoranta S, Manninen H, Koskenkorva P, Könönen M, Laitinen R, Lehesjoki AE, Kälviäinen R, Vanninen R
Bone 2012 Dec;51(6):1016-24. Epub 2012 Aug 23 doi: 10.1016/j.bone.2012.08.123. PMID: 23010349

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