MCID: MYC033
MIFTS: 39

Myoclonus malady

Neuronal diseases category

Summaries for Myoclonus

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NINDS:42 Myoclonus refers to a sudden, involuntary jerking of a muscle or group of muscles. In its simplest form, myoclonus consists of a muscle twitch followed by relaxation. A hiccup is an example of this type of myoclonus. Other familiar examples of myoclonus are the jerks or "sleep starts" that some people experience while drifting off to sleep.

MalaCards based summary: Myoclonus is related to progressive myoclonus epilepsy and progressive myoclonus epilepsy, lafora type. An important gene associated with Myoclonus is EPM2A (epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)), and among its related pathways is Glucose metabolism. The compounds chlorpromazine and amantadine have been mentioned in the context of this disorder. Affiliated tissues include brain, lung and eye, and related mouse phenotypes are other and liver/biliary system.

Wikipedia:63 Myoclonus /ma???kl?n?s/ or /ma???klo?n?s/ is a brief, involuntary twitching of a muscle or a group of... more...

Aliases & Classifications for Myoclonus

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Myoclonus, Aliases & Descriptions:

Name: Myoclonus 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


External Ids:

ICD1025 G25.3

Related Diseases for Myoclonus

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Diseases related to Myoclonus via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 327)
idRelated DiseaseScoreTop Affiliating Genes
1progressive myoclonus epilepsy31.3NHLRC1, EPM2A, PRICKLE1, CSTB
2progressive myoclonus epilepsy, lafora type31.1NHLRC1, EPM2A
3dystonia-11, myoclonic31.0DRD2, SGCE
4epilepsy, progressive myoclonic 2b30.8NHLRC1, EPM2A
5dementia30.5EPM2A, SERPINI1, NHLRC1
6obsessive-compulsive disorder30.1DRD2, SGCE
7alcohol dependence29.8DRD2, NEU1
8epilepsy syndrome29.3NHLRC1, SGCE, SERPINI1, EPM2A, NEU1, CSTB
9myoclonus epilepsy11.1
10dystonia10.9
11ataxia10.7
12propriospinal myoclonus10.6
13dancing eyes-dancing feet syndrome10.5
14tremor10.4
15prickle1-related progressive myoclonus epilepsy with ataxia10.4
16neuroblastoma10.4
17merrf syndrome10.4
18focal dystonia10.3DRD2
19sialidosis, type i10.3
20unverricht-lundborg syndrome10.3
21corticobasal degeneration10.3
22myoclonus, familial cortical10.3
23cerebellar ataxia10.3
24neuronitis10.3
25gilles de la tourette syndrome10.3DRD2
26subacute sclerosing panencephalitis10.3
27faciomandibular myoclonus, nocturnal10.3
28cervicitis10.2
29encephalitis10.2
30neuropathy10.2
31myoclonic cerebellar dyssynergia10.2
32cerebritis10.2
33myoclonus cerebellar ataxia deafness10.2
34blindness10.2
35neuroleptic malignant syndrome10.2NHLRC1, DRD2
36pneumonia10.2
37spinocerebellar ataxia10.2
38jankovic rivera syndrome10.2
39myoclonic encephalopathy of infants10.2
40early myoclonic encephalopathy10.1CSTB, EPM2A
41lung cancer10.1
42bruxism10.1
43mucolipidosis10.1
44mitochondrial encephalomyopathy10.1
45myopathy10.1
46encephalomyopathy10.1
47geniospasm10.1
48ceroid lipofuscinosis, neuronal, 110.0
49breast cancer10.0
50ataxia-telangiectasia10.0

Graphical network of the top 20 diseases related to Myoclonus:



Diseases related to myoclonus

Symptoms for Myoclonus

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Drugs & Therapeutics for Myoclonus

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Drug clinical trials:

Search ClinicalTrials for Myoclonus

Search NIH Clinical Center for Myoclonus

Genetic Tests for Myoclonus

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Anatomical Context for Myoclonus

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MalaCards organs/tissues related to Myoclonus:

31
Brain, Lung, Eye, Cortex, Spinal cord, Breast, Globus pallidus, B cells, Cerebellum, Tongue, Heart, Skeletal muscle, Thyroid, Testes

Animal Models for Myoclonus or affiliated genes

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MGI Mouse Phenotypes related to Myoclonus:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.3DRD2, EPM2A, NHLRC1
2MP:00053708.9DRD2, NEU1, EPM2A, NHLRC1
3MP:00030128.2NHLRC1, NEU1, PRICKLE1, CSTB, DRD2
4MP:00053857.7SCARB2, SGCE, EPM2A, NEU1, DRD2, NOL3
5MP:00053767.4NHLRC1, SCARB2, EPM2A, NEU1, DRD2, NOL3
6MP:00036317.2NHLRC1, SCARB2, SGCE, EPM2A, NEU1, PRICKLE1
7MP:00053697.2NHLRC1, SGCE, EPM2A, NEU1, CSTB, DRD2
8MP:00053846.8NHLRC1, SGCE, EPM2A, NEU1, PRICKLE1, CSTB
9MP:00053866.8DRD2, NHLRC1, SCARB2, SGCE, SERPINI1, EPM2A

Publications for Myoclonus

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Articles related to Myoclonus:

(show top 50)    (show all 1010)
idTitleAuthorsYear
1
Cerebellar and cortical abnormalities in paediatric opsoclonus-myoclonus syndrome. (25290446)
2014
2
BuButorphanol pre-treatment prevents myoclonus induced by etomidate: a randomised, double-blind, controlled clinical trial. (25317545)
2014
3
SGCZ mutations are unlikely to be associated with myoclonus dystonia. (24792710)
2014
4
Abnormal microglial activation in the Cstb(-/-) mouse, a model for progressive myoclonus epilepsy, EPM1. (25327891)
2014
5
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation. (23449775)
2013
6
Clinical diagnosis of propriospinal myoclonus is unreliable: an electrophysiologic study. (24105950)
2013
7
Treatment of palatal myoclonus with botulinum toxin injection. (24223317)
2013
8
Transitory stapedial myoclonus in a patient with benign fasciculation syndrome. (23480624)
2013
9
Reply: autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy. (23803302)
2013
10
Piperazine citrate induced myoclonus in a child. (24347782)
2013
11
Mutation in the mitochondrial tRNA(Ile) gene causes progressive myoclonus epilepsy. (23601850)
2013
12
An unusual presentation of diabetic amyotrophy: myoclonus. (23386493)
2013
13
Anti-glycine receptor antibody mediated progressive encephalomyelitis with rigidity and myoclonus associated with breast cancer. (23936697)
2013
14
A rare case of alcoholic pellagra encephalopathy with startle myoclonus and marked response to niacin therapy: time for a new dictum? (23608853)
2013
15
Deciphering the role of malin in the lafora progressive myoclonus epilepsy. (22815132)
2012
16
Olanzapine-associated myoclonus. (22196307)
2012
17
Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: clinical report of two siblings. (21782476)
2011
18
Opsoclonus myoclonus. (22247816)
2011
19
Outcome and prognostic features in opsoclonus-myoclonus syndrome from infancy to adult life. (21788225)
2011
20
Milestones in myoclonus. (21626558)
2011
21
Axial jerks: a clinical spectrum ranging from propriospinal to psychogenic myoclonus. (20352254)
2010
22
Middle ear myoclonus: a new technique for suppression of spontaneous clicking tinnitus. (21609914)
2010
23
Myoclonus and delirium associated with ciprofloxacin. (20817933)
2010
24
Valproic Acid-induced myoclonus in a demented patient: a case report. (19721703)
2009
25
Idiopathic spinal myoclonus: a clinical and neurophysiological assessment of a movement disorder of uncertain origin. (19908306)
2009
26
Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes. (19267391)
2009
27
Efficacy of lamotrigine in disabling myoclonus in a patient with an mtDNA A3243G mutation. (19349610)
2009
28
Opsoclonus-myoclonus with multiple paraneoplastic syndromes and VGCC antibodies. (19650369)
2009
29
Myoclonus. (18579026)
2008
30
Venlafaxine induced-myoclonus in a patient with mixed dementia. (19099135)
2008
31
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. (18976727)
2008
32
Segmental myoclonus as the presenting symptom of an acute disseminated encephalomyelitis: a case report. (16530437)
2006
33
Polymerase chain reaction-based analysis using deaminated DNA of dodecamer expansions in CSTB, associated with Unverricht-Lundborg myoclonus epilepsy. (16379547)
2005
34
Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene. (16240355)
2005
35
Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus. (15304597)
2004
36
Unique form of propriospinal myoclonus as a possible complication of an enteropathogenic toxin. (12889087)
2003
37
Characterization of the cystatin B gene promoter harboring the dodecamer repeat expanded in progressive myoclonus epilepsy, EPM1. (10721698)
2000
38
A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA (Lys) gene associated with myoclonus epilepsy with ragged-red fibers. (9932960)
1999
39
Single muscle fiber analysis of myoclonus epilepsy with ragged-red fibers. (9533783)
1998
40
Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1. (9054946)
1997
41
Two cases of essential myoclonus, epilepsy, mental retardation and anxiety disorders. (9339874)
1997
42
Early-childhood progressive myoclonus epilepsy presenting as partial seizures in dentatorubral-pallidoluysian atrophy. (9070587)
1997
43
Human brainstem serotonin receptors: characterization and implications for subcortical myoclonus. (8937789)
1996
44
The gene for human U2 snRNP auxiliary factor small 35-kDa subunit (U2AF1) maps to the progressive myoclonus epilepsy (EPM1) critical region on chromosome 21q22.3. (8660980)
1996
45
Neonatal sleep myoclonus followed by myoclonic-astatic epilepsy: a case report. (2512119)
1989
46
Urinary glycosaminoglycans in patients with progressive myoclonus epilepsy. (90138)
1979
47
Urinary excretion of indican in progressive myoclonus epilepsy without Lafora bodies. The effect of sodium valproate. (105091)
1978
48
Isolation and characterization of the glycopeptide from the urine of myoclonus epilepsy of Lafora-body type. (1212236)
1975
49
Studies in myoclonus epilepsy (Lafora body form). II. Polyglucosans in the systemic deposits of myoclonus epilepsy and in corpora amylacea. (4188951)
1970
50
Early childhood cerebral lipidosis with prominent myoclonus. Ultrastructural and histochemical studies of a cerebral biopsy. (5634370)
1968

Variations for Myoclonus

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Expression for genes affiliated with Myoclonus

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Search GEO for disease gene expression data for Myoclonus.

Pathways for genes affiliated with Myoclonus

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Pathways related to Myoclonus according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
malate-aspartate shuttle36
glycogen biosynthesis II (from UDP-D-Glucose)36
9.9EPM2A, NHLRC1

Compounds for genes affiliated with Myoclonus

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Sources:
28IUPHAR, 43Novoseek, 49PharmGKB, 12DrugBank
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Compounds related to Myoclonus according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1chlorpromazine28 43 49 1212.5DRD2, NEU1
2amantadine43 1210.4DRD2, NEU1
3polysaccharide439.0NEU1, EPM2A, SCARB2

GO Terms for genes affiliated with Myoclonus

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Cellular components related to Myoclonus according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:00432029.6NEU1, SCARB2

Biological processes related to Myoclonus according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1glycogen biosynthetic processGO:00059789.8EPM2A, NHLRC1
2positive regulation of protein ubiquitinationGO:00313989.5PRICKLE1, NHLRC1
3negative regulation of endopeptidase activityGO:00109519.3CSTB, SERPINI1

Products for genes affiliated with Myoclonus

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Sources for Myoclonus

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet