MCID: MYC033
MIFTS: 47

Myoclonus malady

Neuronal category

Summaries for Myoclonus

Sources:
44NINDS, 64Wikipedia, 33MalaCards
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NINDS:44 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: Myoclonus is related to myoclonus-dystonia 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 are Lysosome and Erythropoietin Pathway. The compounds cl 100 and glycogen have been mentioned in the context of this disorder. Affiliated tissues include tongue, spinal cord and brain, and related mouse phenotypes are behavior/neurological and cellular.

Wikipedia:64 Myoclonus /maɪˈɒklənəs/ or /maɪəˈkloʊnəs/ (also called \"The liars twitch\") is a brief,... more...

Aliases & Classifications for Myoclonus

Sources:
44NINDS, 25ICD10
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Classifications:

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


Aliases & Descriptions:

myoclonus 44


External Ids:

ICD1025 G25.3

Related Diseases for Myoclonus

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Myoclonus via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 251)
idRelated DiseaseScoreTop Affiliating Genes
1myoclonus-dystonia31.3DRD2, SGCE
2progressive myoclonus epilepsy, lafora type30.6NHLRC1, EPM2A
3lafora disease30.6CSTB, DUSP13, CDKN3, EPM2A, ACP1, NHLRC1
4focal dystonia30.0DRD2
5brain disease29.7CLN5, EIF2B5, SERPINI1
6blindness29.7CLN5
7myoclonus epilepsy11.0
8ataxia10.6
9propriospinal myoclonus10.6
10n syndrome10.5
11tremor10.4
12dancing eyes-dancing feet syndrome10.4
13merrf syndrome10.3
14prickle1-related progressive myoclonus epilepsy with ataxia10.3
15corticobasal degeneration10.3
16myoclonus, familial cortical10.3
17unverricht-lundborg syndrome10.3
18ramsay-hunt syndrome10.3
19subacute sclerosing panencephalitis10.2
20adult syndrome10.2
21sialidosis type i10.2
22faciomandibular myoclonus, nocturnal10.2
23myoclonic cerebellar dyssynergia10.1
24visual epilepsy10.1
25spinocerebellar ataxia10.1
26myoclonus epilepsy partial seizure10.1
27chorea10.1
28myoclonic encephalopathy of infants10.1
29epilepsy, familial adult myoclonic, 510.1
30bruxism10.1
31mucolipidosis10.1
32encephalomyopathy10.1
33myoclonus cerebellar ataxia deafness10.1
34dystonia 710.1
35dentatorubral atrophy10.1
36status epilepticus10.0
37olivopontocerebellar atrophy10.0
38restless legs syndrome10.0
39blepharospasm10.0
40dentatorubral-pallidoluysian atrophy10.0
41progressive supranuclear palsy10.0
42alexander disease10.0
43juvenile myoclonic epilepsy10.0
44char syndrome10.0
45galactosialidosis10.0
46mental retardation epilepsy10.0
47star syndrome10.0
48mental retardation10.0
49dystonia-11, myoclonic10.0
50progressive myoclonus epilepsy10.0NHLRC1, CSTB, PPP1R3C, PRICKLE1, EPM2A

Graphical network of the top 20 diseases related to Myoclonus:



Diseases related to myoclonus

Clinical Features for Myoclonus

Drugs & Therapeutics for Myoclonus

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Myoclonus

Drug clinical trials:

Search ClinicalTrials for Myoclonus

Search NIH Clinical Center for Myoclonus

Search CenterWatch for Myoclonus

Genetic Tests for Myoclonus

Anatomical Context for Myoclonus

Sources:
33MalaCards
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MalaCards organs/tissues related to Myoclonus:

33
Tongue, Spinal cord, Brain, Lung, Whole blood, Cortex, Cerebellum, Heart, Skeletal muscle, Small intestine, Thyroid, Breast, T cells, B cells, Globus pallidus

Animal Models for Myoclonus or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Myoclonus

Sources:
51PubMed
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Articles related to Myoclonus:

(show top 50)    (show all 955)
idTitleAuthorsYear
1
Middle ear myoclonus: two informative cases and a systematic discussion of myogenic tinnitus. (23610741)
2013
2
Insights in progressive myoclonus epilepsy: HSP70 promotes cystatin B polymerization. (24063889)
2013
3
Cortical action myoclonus due to cortical laminar necrosis. (24052452)
2013
4
Lingual myoclonus and neuropsychiatric lupus: a new association? (24330407)
2013
5
Generalized myoclonus as a prominent symptom in a patient with FTLD-TDP. (23657632)
2013
6
Rituximab for Opsoclonus Myoclonus Ataxia Syndrome Associated with Neuroblastoma. (23625470)
2013
7
Deciphering the role of malin in the lafora progressive myoclonus epilepsy. (22815132)
2012
8
A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure. (23225201)
2012
9
Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation. (22169383)
2012
10
A case of neurosyphilis presenting with myoclonus, cerebellar ataxia, and speech disturbance. (22407549)
2012
11
Supranuclear gaze palsy in glycine receptor antibody-positive progressive encephalomyelitis with rigidity and myoclonus. (23129530)
2012
12
Lafora progressive myoclonus epilepsy: recent insights into cell degeneration. (22369717)
2012
13
Mutation of the CLN6 gene in teenage-onset progressive myoclonus epilepsy. (22883287)
2012
14
Middle ear myoclonus associated with forced eyelid closure in children: diagnosis and treatment outcome. (22778030)
2012
15
Familial cortical myoclonus with a mutation in NOL3. (22926851)
2012
16
Myoclonus associated with long-term use of diltiazem. (21880885)
2011
17
N-methyl-D-aspartate receptor autoimmune encephalitis presenting with opsoclonus-myoclonus: treatment response to plasmapheresis. (21825245)
2011
18
Spinal myoclonus after subarachnoid anesthesia with bupivacaine. (21920212)
2011
19
Myoclonus and delirium associated with ciprofloxacin. (20817933)
2010
20
Hereditary myoclonus dystonia (DYT11): a novel SGCE gene mutation with intrafamilial phenotypic heterogeneity. (20222131)
2010
21
Propriospinal myoclonus due to cord compression in the absence of myelopathy. (20310008)
2010
22
A prospective study of the presentation and management of dancing eye syndrome/opsoclonus-myoclonus syndrome in the United Kingdom. (19423368)
2010
23
Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion. (20425829)
2010
24
Insights on chronic-relapsing opsoclonus-myoclonus from a pilot study of mycophenolate mofetil. (19258290)
2009
25
Propriospinal myoclonus at sleep onset causing severe insomnia: a polysomnographic and electromyographic analysis. (19230756)
2009
26
Facio-mandibular myoclonus specific during REM sleep. (18381251)
2009
27
The association between neuroblastoma and opsoclonus-myoclonus syndrome: a historical review. (19430769)
2009
28
Memantine-induced myoclonus and delirium exacerbated by trimethoprim. (18303133)
2008
29
Antihistamine-associated myoclonus: A case report. (18581470)
2008
30
Meropenem-aggravated seizure activity in progressive myoclonus epilepsy. (18061410)
2008
31
Evidence for progressive changes in clinical presentation of myoclonus-dystonia. (17486615)
2007
32
Sleep-related faciomandibular myoclonus: A sleep-related movement disorder different from bruxism. (17657812)
2007
33
Myoclonus relieved by carbamazepine in subacute sclerosing panencephalitis. (16567332)
2006
34
Botulinum toxin treatment of facial myoclonus in suspected Rasmussen encephalitis. (16758485)
2006
35
Case of symptomatic propriospinal myoclonus evolving toward acute "myoclonic status". (16092107)
2005
36
Inherited myoclonus-dystonia. (14509663)
2004
37
Propriospinal myoclonus after treatment with ciprofloxacin. (15133830)
2004
38
Opsoclonus-myoclonus-dysequilibrium syndrome: cytological and immunological dynamics in the serial cerebrospinal fluid in two patients. (14673573)
2003
39
Reflex-sensitive spinal segmental myoclonus associated with vitamin B12 deficiency. (14504348)
2003
40
Neuroserpin mutation S52R causes neuroserpin accumulation in neurons and is associated with progressive myoclonus epilepsy. (11138927)
2000
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
AIDS dementia complex with generalized myoclonus. (9251080)
1997
43
Recurrent pain attacks in a 3-year-old patient with myoclonus epilepsy associated with ragged-red fibers (MERRF): a single-photon emission computed tomographic (SPECT) and electrophysiological study. (9134192)
1997
44
Neuropharmacology of progressive myoclonus epilepsy: response to 5-hydroxy-L-tryptophan. (7543407)
1995
45
Cortical hyperexcitability in progressive myoclonus epilepsy: a study with transcranial magnetic stimulation. (8423883)
1993
46
Opsoclonus-myoclonus with Beckwith-Wiedemann syndrome and hepatoblastoma. (1313677)
1992
47
Non-epileptic myoclonus and mitochondrial encephalomyopathy. (2619613)
1989
48
Neuropathology of myoclonus epilepsy associated with ragged-red fibers (Fukuhara's disease). (3132027)
1988
49
Skeletal myoclonus in olivopontocerebellar atrophy: treatment with trihexyphenidyl. (3474546)
1987
50
Transient effect of L-tryptophan in progressive myoclonus epilepsy without Lafora bodies: clinical and electrophysiological study. (6772434)
1980

Genetic Variations for Myoclonus

Expression for genes affiliated with Myoclonus

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Myoclonus

Search GEO for disease gene expression data for Myoclonus.

Pathways for genes affiliated with Myoclonus

Sources:
30KEGG, 52QIAGEN
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Pathways related to Myoclonus according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.5CLN5, NEU1, SCARB2
2
Hide members
10.4EIF2B5, PPP1R3C, DRD2, UBC

Compounds for genes affiliated with Myoclonus

Sources:
45Novoseek, 24HMDB, 29IUPHAR, 11DrugBank, 50PharmGKB, 60Tocris Bioscience
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Compounds related to Myoclonus according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1cl 1004510.7ACP1, CDKN3, DUSP13
2glycogen45 2411.7PPP1R3C, CDKN3, EPM2A, EIF2B5, NHLRC1
3phosphothreonine4510.7ACP1, CDKN3, DUSP13
4trifluoperazine45 29 1112.7ACP1, CDKN3, DRD2
5tungstate4510.7DUSP13, ACP1
6fluspirilene29 45 1112.7DRD2, CDKN3
7phosphoserine45 2411.7ACP1, CDKN3, DUSP13
8sodium stibogluconate45 1111.6CDKN3, ACP1
9n-ethylmaleimide45 1111.6ACP1, CDKN3, NEU1
10acetylcholine45 50 29 11 2414.6DRD2, NEU1, CDKN3, ACP1
11amantadine45 1111.5DRD2, NEU1
12p-nitrophenyl phosphate4510.4ACP1, CDKN3
13cytochalasin d45 6011.4ACP1, CDKN3, NEU1
14levamisole45 1111.4NEU1, CDKN3
15lactone4510.2NEU1, CDKN3

GO Terms for genes affiliated with Myoclonus

Sources:
16Gene Ontology
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Molecular functions related to Myoclonus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein tyrosine/serine/threonine phosphatase activityGO:00813810.5EPM2A, CDKN3, DUSP13
2protein bindingGO:00551510.4SCARB2, DRD2, PPP1R3C, PRICKLE1, TRAPPC10, CDKN3
3protein serine/threonine phosphatase activityGO:00472210.4EPM2A, CDKN3, PPP1R3C
4protein tyrosine phosphatase activityGO:00472510.2DUSP13, CDKN3, EPM2A

Products for genes affiliated with Myoclonus

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Myoclonus

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet