MCID: MYC033
MIFTS: 45

Myoclonus malady

Neuronal diseases category
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Summaries for Myoclonus

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NINDS:43 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 myoclonus-dystonia and progressive myoclonus epilepsy. 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 cortex, and related mouse phenotypes are other and liver/biliary system.

Wikipedia:65 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 43


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/GeneDecks gene sharing:

(show top 50)    (show all 294)
idRelated DiseaseScoreTop Affiliating Genes
1myoclonus-dystonia31.6SGCE, DRD2
2progressive myoclonus epilepsy31.3NHLRC1, CSTB, EPM2A, PRICKLE1
3progressive myoclonus epilepsy, lafora type31.1EPM2A, NHLRC1
4lafora disease30.5CSTB, EPM2A, NHLRC1
5dementia30.5SERPINI1, NHLRC1, EPM2A
6obsessive-compulsive disorder30.1SGCE, DRD2
7huntington's disease30.0DRD2, SERPINI1
8epilepsy syndrome29.4NEU1, SERPINI1, SGCE, NHLRC1, EPM2A, CSTB
9myoclonus epilepsy11.1
10dystonia10.9
11ataxia10.7
12propriospinal myoclonus10.6
13dancing eyes-dancing feet syndrome10.5
14tremor10.5
15prickle1-related progressive myoclonus epilepsy with ataxia10.4
16merrf syndrome10.4
17neuroblastoma10.4
18focal dystonia10.3DRD2
19corticobasal degeneration10.3
20sialidosis type i10.3
21cerebellar ataxia10.3
22unverricht-lundborg syndrome10.3
23ramsay-hunt syndrome10.3
24neuronitis10.3
25subacute sclerosing panencephalitis10.3
26cervicitis10.2
27encephalitis10.2
28neuropathy10.2
29myoclonus, familial cortical10.2
30gilles de la tourette syndrome10.2DRD2
31mucolipidosis10.2
32cerebritis10.2
33faciomandibular myoclonus, nocturnal10.2
34epilepsy, familial adult myoclonic, 510.2
35blindness10.2
36myoclonic cerebellar dyssynergia10.2
37juvenile myoclonic epilepsy10.2
38pneumonia10.2
39spinocerebellar ataxia10.2
40chorea10.2
41myoclonic encephalopathy of infants10.2
42dystonia-11, myoclonic10.2
43neuroleptic malignant syndrome10.2NHLRC1, DRD2
44early myoclonic encephalopathy10.1EPM2A, CSTB
45bruxism10.1
46lung cancer10.1
47mitochondrial encephalomyopathy10.1
48myopathy10.1
49benign hereditary chorea10.1
50encephalomyopathy10.1

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:

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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:

32
Brain, Lung, Cortex, Eye, 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:

36
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 983)
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
Myoclonus induced by haloperidol in the intensive care unit. (23037679)
2012
18
Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: clinical report of two siblings. (21782476)
2011
19
Opsoclonus myoclonus. (22247816)
2011
20
Outcome and prognostic features in opsoclonus-myoclonus syndrome from infancy to adult life. (21788225)
2011
21
Milestones in myoclonus. (21626558)
2011
22
Axial jerks: a clinical spectrum ranging from propriospinal to psychogenic myoclonus. (20352254)
2010
23
Middle ear myoclonus: a new technique for suppression of spontaneous clicking tinnitus. (21609914)
2010
24
Myoclonus and delirium associated with ciprofloxacin. (20817933)
2010
25
Valproic Acid-induced myoclonus in a demented patient: a case report. (19721703)
2009
26
Idiopathic spinal myoclonus: a clinical and neurophysiological assessment of a movement disorder of uncertain origin. (19908306)
2009
27
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
28
Efficacy of lamotrigine in disabling myoclonus in a patient with an mtDNA A3243G mutation. (19349610)
2009
29
Opsoclonus-myoclonus with multiple paraneoplastic syndromes and VGCC antibodies. (19650369)
2009
30
Myoclonus. (18579026)
2008
31
Venlafaxine induced-myoclonus in a patient with mixed dementia. (19099135)
2008
32
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. (18976727)
2008
33
Segmental myoclonus as the presenting symptom of an acute disseminated encephalomyelitis: a case report. (16530437)
2006
34
Polymerase chain reaction-based analysis using deaminated DNA of dodecamer expansions in CSTB, associated with Unverricht-Lundborg myoclonus epilepsy. (16379547)
2005
35
Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene. (16240355)
2005
36
Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus. (15304597)
2004
37
Unique form of propriospinal myoclonus as a possible complication of an enteropathogenic toxin. (12889087)
2003
38
Characterization of the cystatin B gene promoter harboring the dodecamer repeat expanded in progressive myoclonus epilepsy, EPM1. (10721698)
2000
39
A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA (Lys) gene associated with myoclonus epilepsy with ragged-red fibers. (9932960)
1999
40
Single muscle fiber analysis of myoclonus epilepsy with ragged-red fibers. (9533783)
1998
41
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
42
Two cases of essential myoclonus, epilepsy, mental retardation and anxiety disorders. (9339874)
1997
43
Early-childhood progressive myoclonus epilepsy presenting as partial seizures in dentatorubral-pallidoluysian atrophy. (9070587)
1997
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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Expression patterns in normal tissues for genes affiliated with Myoclonus

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Pathways for genes affiliated with Myoclonus

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Pathways related to Myoclonus according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
malate-aspartate shuttle37
glycogen biosynthesis II (from UDP-D-Glucose)37
9.9EPM2A, NHLRC1

Compounds for genes affiliated with Myoclonus

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Sources:
28IUPHAR, 44Novoseek, 50PharmGKB, 11DrugBank
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Compounds related to Myoclonus according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1chlorpromazine28 44 50 1112.5DRD2, NEU1
2amantadine44 1110.4DRD2, NEU1
3polysaccharide449.0NEU1, EPM2A, SCARB2

GO Terms for genes affiliated with Myoclonus

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Cellular components related to Myoclonus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:0432029.6NEU1, SCARB2

Biological processes related to Myoclonus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glycogen biosynthetic processGO:0059789.8EPM2A, NHLRC1
2positive regulation of protein ubiquitinationGO:0313989.5PRICKLE1, NHLRC1
3negative regulation of endopeptidase activityGO:0109519.3CSTB, 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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet