MCID: MYC033
MIFTS: 42

Myoclonus malady

Categories: Neuronal diseases

Aliases & Classifications for Myoclonus

Aliases & Descriptions for Myoclonus:

Name: Myoclonus 51 29

Classifications:



External Ids:

ICD10 33 G25.3

Summaries for Myoclonus

NINDS : 51 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.  These simple forms of myoclonus occur in normal, healthy persons and cause no difficulties. When more widespread, myoclonus may involve persistent, shock-like contractions in a group of muscles.  Myoclonic jerking may develop in people with multiple sclerosis, Parkinson's disease, Alzheimer's disease, or Creutzfeldt-Jakob disease. Myoclonic jerks commonly occur in persons with epilepsy, a disorder in which the electrical activity in the brain becomes disordered and leads to seizures.  Myoclonus may develop in response to infection, head or spinal cord injury, stroke, brain tumors, kidney or liver failure, lipid storage disease, chemical or drug poisoning, or other disorders.  It can occur by itself, but most often it is one of several symptoms  associated with a wide variety of nervous system disorders.

MalaCards based summary : Myoclonus is related to opsoclonus-myoclonus syndrome and myoclonus, familial cortical. An important gene associated with Myoclonus is EPM2A (EPM2A, Laforin Glucan Phosphatase). The drugs Midazolam and Valproic Acid have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and liver, and related phenotypes are behavior/neurological and cellular

Wikipedia : 71 Myoclonus is a brief, involuntary twitching of a muscle or a group of muscles. It describes a medical... more...

Related Diseases for Myoclonus

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

(show top 50) (show all 295)
id Related Disease Score Top Affiliating Genes
1 opsoclonus-myoclonus syndrome 12.3
2 myoclonus, familial cortical 12.2
3 progressive myoclonus epilepsy 12.1
4 prickle1-related progressive myoclonus epilepsy with ataxia 12.1
5 progressive myoclonus epilepsy, lafora type 12.1
6 propriospinal myoclonus 12.0
7 myoclonus epilepsy 11.9
8 progressive encephalomyelitis with rigidity and myoclonus 11.8
9 myoclonus, cerebellar ataxia, and deafness 11.8
10 gosr2-related progressive myoclonus ataxia 11.8
11 faciomandibular myoclonus, nocturnal 11.7
12 dystonia-11, myoclonic 11.7
13 sialidosis, type i 11.7
14 myoclonus epilepsy partial seizure 11.7
15 unverricht-lundborg syndrome 11.6
16 epilepsy, progressive myoclonic 4, with or without renal failure 11.6
17 dravet syndrome 11.5
18 epilepsy, progressive myoclonic 6 11.4
19 myoclonic epilepsy associated with ragged-red fibers 11.4
20 epilepsy, progressive myoclonic 2b 11.4
21 epilepsy, progressive myoclonic 7 11.4
22 periodic limb movement disorder 11.3
23 myoclonic cerebellar dyssynergia 11.3
24 spinal muscular atrophy with progressive myoclonic epilepsy 11.2
25 epilepsy, myoclonic, familial adult, 2 11.2
26 epilepsy, progressive myoclonic 1b 11.2
27 epilepsy, progressive myoclonic, 9 11.2
28 epilepsy, progressive myoclonic, 8 11.2
29 epilepsy, generalized, with febrile seizures plus, type 5 11.2
30 galactosialidosis 11.1
31 geniospasm 1 11.0
32 stiff-person syndrome 10.9
33 creutzfeldt-jakob disease 10.9
34 mitochondrial disorders 10.9
35 ataxia-telangiectasia 10.9
36 dentatorubro-pallidoluysian atrophy 10.9
37 epilepsy, progressive myoclonic 1a 10.9
38 ceroid lipofuscinosis, neuronal, 7 10.8
39 myoclonic encephalopathy of infants 10.8
40 dancing eyes-dancing feet syndrome 10.8
41 glycoproteinosis 10.8
42 jankovic rivera syndrome 10.8
43 benign adult familial myoclonic epilepsy 10.8
44 epilepsy, progressive myoclonic 3, with or without intracellular inclusions 10.8
45 epilepsy, progressive myoclonic 5 10.8
46 epileptic encephalopathy, early infantile, 3 10.7
47 ceroid lipofuscinosis, neuronal, 2 10.7
48 epilepsy, progressive myoclonic 10 10.7
49 chorea, hereditary benign 10.7
50 epilepsy 10.7

Graphical network of the top 20 diseases related to Myoclonus:



Diseases related to Myoclonus

Symptoms & Phenotypes for Myoclonus

MGI Mouse Phenotypes related to Myoclonus:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.02 NEU1 NHLRC1 CERS1 CSTB PRICKLE1 DRD2
2 cellular MP:0005384 9.91 NEU1 NHLRC1 CERS1 NOL3 CSTB PRICKLE1
3 cardiovascular system MP:0005385 9.87 EPM2A NEU1 NOL3 PRICKLE1 DRD2 SCARB2
4 muscle MP:0005369 9.76 NEU1 NHLRC1 NOL3 CSTB PRICKLE1 DRD2
5 nervous system MP:0003631 9.61 NEU1 NHLRC1 CERS1 CSTB PRICKLE1 DRD2
6 no phenotypic analysis MP:0003012 9.02 NEU1 NHLRC1 CSTB PRICKLE1 DRD2

Drugs & Therapeutics for Myoclonus

Drugs for Myoclonus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 118)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
2
Valproic Acid Approved, Investigational Phase 4 99-66-1 3121
3
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
4
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
5
Clonazepam Approved, Illicit Phase 4 1622-61-3 2802
6
Etomidate Approved Phase 4 33125-97-2 36339 667484
7
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
8
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
9
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
10
Dexmedetomidine Approved, Vet_approved Phase 4 76631-46-4, 113775-47-6 68602 5311068 56032
11
Remifentanil Approved Phase 4 132875-61-7 60815
12
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
13 Analgesics Phase 4,Phase 2
14 Adjuvants, Anesthesia Phase 4
15 Narcotics Phase 4,Phase 2
16 GABA Agents Phase 4
17 GABA Modulators Phase 4
18 Neuromuscular Agents Phase 4
19 Sodium Channel Blockers Phase 4
20 Neuromuscular Blocking Agents Phase 4
21 Neuromuscular Nondepolarizing Agents Phase 4
22 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
23 Analgesics, Opioid Phase 4,Phase 2
24 Tranquilizing Agents Phase 4
25 Anesthetics Phase 4
26 Diuretics, Potassium Sparing Phase 4
27 Anesthetics, General Phase 4
28 Anesthetics, Intravenous Phase 4
29 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2
30 Anesthetics, Local Phase 4
31 Pharmaceutical Solutions Phase 4
32 Anti-Anxiety Agents Phase 4
33 Hypnotics and Sedatives Phase 4
34 Anti-Arrhythmia Agents Phase 4
35 Anticonvulsants Phase 4,Phase 3
36 Psychotropic Drugs Phase 4
37 Antimanic Agents Phase 4
38 Central Nervous System Depressants Phase 4,Phase 2
39 Cholinergic Agents Phase 4
40
Atracurium Phase 4 64228-79-1 47319
41 Cisatracurium Phase 4
42 Cholinergic Antagonists Phase 4
43 Adrenergic Agents Phase 4
44 Adrenergic Agonists Phase 4
45 Adrenergic alpha-2 Receptor Agonists Phase 4
46 Adrenergic alpha-Agonists Phase 4
47 Analgesics, Non-Narcotic Phase 4
48 Citrate Nutraceutical Phase 4
49
Citric Acid Nutraceutical, Vet_approved Phase 4 77-92-9 311
50
rituximab Approved Phase 3,Phase 2,Phase 1 174722-31-7 10201696

Interventional clinical trials:

(show all 32)
id Name Status NCT ID Phase
1 Effect of Pre-injection of Lidocaine on Myoclonus Induced by Induction With Etomidate in Elderly Patients During General Anesthesia Unknown status NCT02141737 Phase 4
2 The Benefit of Prophylactic Anticonvulsant in Post Cardiac Arrest Syndrome With Induced Mild Hypothermia Unknown status NCT01083784 Phase 4
3 Sole Local Anesthetic Versus Opioid Plus Local Anesthesia in Epidural Labor Analgesia Completed NCT02036242 Phase 4
4 Effects and Mechanism of Pretreatment With Dexmedetomidine to Etomidate Induce Myoclonus Not yet recruiting NCT02518789 Phase 4
5 Efficacy Trial of Zonisamide for Myoclonus Dystonia Completed NCT01806805 Phase 3
6 Cyclophosphamide and Prednisone With or Without Immunoglobulin in Treating Abnormal Muscle Movement in Children With Neuroblastoma Completed NCT00033293 Phase 3
7 Brivaracetam as add-on Treatment of Unverricht-Lundborg Disease (ULD) in Adolescents and Adults Completed NCT00368251 Phase 3
8 Brivaracetam as add-on Treatment of Unverricht-Lundborg Disease in Adolescents and Adults Completed NCT00357669 Phase 3
9 Levetiracetam as add-on Treatment of Myoclonic Jerks in Adolescents + Adults Completed NCT00150774 Phase 3
10 Piracetam for Treatment Tardive Dyskinesia Completed NCT00190008 Phase 3
11 Opsoclonus Myoclonus Syndrome/Dancing Eye Syndrome (OMS/DES) in Children With and Without Neuroblastoma (NBpos and NBneg)Opsoclonus Myoclonus Syndrome/Dancing Eye Syndrome (OMS/DES) in Children With and Without Neuroblastoma (NBpos and NBneg) Recruiting NCT01868269 Phase 3
12 Use of Rituximab in Opsoclonus-Myoclonus in Children With Neuroblastoma Unknown status NCT00202930 Phase 2
13 Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg Type Unknown status NCT00639119 Phase 2
14 Effectiveness of Rituximab in Pediatric OMS Patients. Completed NCT00244361 Phase 1, Phase 2
15 OGT 918-006: A Phase I/II Randomized, Controlled Study of OGT 918 in Patients With Neuronopathic Gaucher Disease Completed NCT00041535 Phase 2
16 Stem Cell Transplantation for Stiff Person Syndrome (SPS) Recruiting NCT02282514 Phase 1, Phase 2
17 Pilot Efficacy Study of T2000 in Myoclonus Dystonia Terminated NCT00506012 Phase 2
18 Role of Methadone As Co-Opioid Analgesic Terminated NCT00558870 Phase 2
19 Treatment of Cortical Myoclonus With Repetitive Transcranial Magnetic Stimulation Completed NCT00001663 Phase 1
20 Tonicity Monitor For Epilepsy and Hypertonic Disorders Unknown status NCT02110589
21 Study of Cytokines in Children With Opsoclonus-Myoclonus Syndrome Completed NCT00806182
22 Ketogenic Diet in Lafora Disease Completed NCT00007124
23 Immunotherapy of the Paraneoplastic Syndromes Completed NCT00378326
24 Parenteral Hydration in Advanced Cancer Patients Completed NCT00423722
25 Genotype/Phenotype Correlation of Movement Disorders and Other Neurological Diseases Completed NCT00001667
26 Effect of Levetiracetam on Brain Excitability Completed NCT00006191
27 Neurodevelopment Outcomes Following Severe Hand Foot and Mouth Disease in Vietnam Completed NCT02066714
28 The Dystonia Coalition Natural History and Biospecimen Repository for Isolated Dystonias Recruiting NCT01373424
29 Predictive Electrophysiological Score of the Neurological Prognosis Post Cardiac Arrest Recruiting NCT02886039
30 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
31 Phenotype/Genotype Correlations in Movement Disorders Recruiting NCT00018889
32 Botulinum Toxin for the Treatment of Involuntary Movement Disorders Recruiting NCT00001208

Search NIH Clinical Center for Myoclonus

Genetic Tests for Myoclonus

Genetic tests related to Myoclonus:

id Genetic test Affiliating Genes
1 Myoclonus 29

Anatomical Context for Myoclonus

MalaCards organs/tissues related to Myoclonus:

39
Brain, Spinal Cord, Liver, Kidney, Lung, Eye, Cortex

Publications for Myoclonus

Articles related to Myoclonus:

(show top 50) (show all 1122)
id Title Authors Year
1
Longitudinal multi-modal neuroimaging in opsoclonus-myoclonus syndrome. ( 28054126 )
2017
2
Chronic encephalopathy with ataxia, myoclonus, and auditory neuropathy: A case of bismuth poisoning. ( 28084272 )
2017
3
A Case of Myoclonus-Dystonia Responding to Low-frequency Pallidal Stimulation. ( 28503362 )
2017
4
Movement-activated cortical myoclonus in Dravet syndrome. ( 28126647 )
2017
5
Rapidly progressive dementia with myoclonus: Not Creutzfeldt-Jakob disease. ( 28290426 )
2017
6
SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome. ( 27582254 )
2016
7
Chronic negative myoclonus with hypercapnic encephalopathy. ( 27604982 )
2016
8
Clinical and Immunological Features of Opsoclonus-Myoclonus Syndrome in the Era of Neuronal Cell Surface Antibodies. ( 26856612 )
2016
9
Orthostatic myoclonus associated with Caspr2 antibodies. ( 26944274 )
2016
10
Progressive encephalomyelitis with rigidity and myoclonus (PERM): brucellosis as a possible triggering factor and long-term follow-up therapy with rituximab. ( 26788132 )
2016
11
KCTD7-related progressive myoclonus epilepsy. ( 27629772 )
2016
12
Adult-onset Opsoclonus-Myoclonus Syndrome Associated With Ganglionic Acetylcholine Receptor Autoantibody. ( 27801769 )
2016
13
Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review. ( 27632409 )
2016
14
Bilateral pallidal deep brain stimulation in myoclonus-dystonia: our experience in three cases and their follow-up. ( 27531176 )
2016
15
Orthostatic myoclonus associated with Caspr2 antibodies. ( 27621382 )
2016
16
The history of progressive myoclonus epilepsies. ( 27621064 )
2016
17
Early onset of propriospinal-like myoclonus in a child following a vertebral fracture. ( 27572429 )
2016
18
FoxO3a-mediated autophagy is down-regulated in the laforin deficient mice, an animal model for Lafora progressive myoclonus epilepsy. ( 27107699 )
2016
19
GOSR2: a progressive myoclonus epilepsy gene. ( 27618868 )
2016
20
Altered functional brain connectivity in children and young people with opsoclonus-myoclonus syndrome. ( 27658927 )
2016
21
Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK) is caused by heterozygous KCNC1 mutations. ( 27629860 )
2016
22
Trends and tenets in relapsing and progressive opsoclonus-myoclonus syndrome. ( 26786246 )
2016
23
Brain inflammation is accompanied by peripheral inflammation in Cstb (-/-) mice, a model for progressive myoclonus epilepsy. ( 27894304 )
2016
24
Myoclonus: Pathophysiology and Treatment Options. ( 27039330 )
2016
25
Opsoclonus-Myoclonus Syndrome, Neuroblastoma, and Insulin-Dependent Diabetes Mellitus in a Child: A Unique Patient. ( 26778146 )
2016
26
Myoclonus-dystonia: An under-recognized entity - Report of 5 cases. ( 27625242 )
2016
27
Adult-onset opsoclonus-myoclonus syndrome due to West Nile Virus treated with intravenous immunoglobulin. ( 27473195 )
2016
28
Improvement of Isolated Myoclonus Phenotype in Myoclonus Dystonia after Pallidal Deep Brain Stimulation. ( 26989574 )
2016
29
Autosomal dominant cortical tremor, myoclonus and epilepsy. ( 27618961 )
2016
30
Myoclonus dystonia and muscular dystrophy: E9-sarcoglycan is part of the dystrophin-associated protein complex in brain. ( 27535350 )
2016
31
Post-modern therapeutic approaches for progressive myoclonus epilepsy. ( 27630083 )
2016
32
Speech-activated Myoclonus Mimicking Stuttering in a Patient with Myoclonus-Dystonia Syndrome. ( 27441098 )
2016
33
Opsoclonus-Myoclonus Syndrome in the Era of Neuronal Cell Surface Antibodies: A Message for Clinicians. ( 27159217 )
2016
34
Snake bite-induced myoclonus, myokymia and myospasm with leukoencephalopathy: a video presentation. ( 27095811 )
2016
35
Choreoathetosis, Dystonia, and Myoclonus in 3 Siblings With Autosomal Recessive Spinocerebellar Ataxia Type 16. ( 27182963 )
2016
36
Anterocollis and startle myoclonus due to Lyme meningomyeloradiculitis. ( 27037820 )
2016
37
Expanding phenotype of PRRT2 gene mutations: A new case with epilepsy and benign myoclonus of early infancy. ( 26876767 )
2016
38
Four cases of orthostatic myoclonus. ( 26916904 )
2016
39
Progressive myoclonus epilepsy associated with SACS gene mutations. ( 27433545 )
2016
40
Laryngeal myoclonus. ( 26979350 )
2016
41
Genetic features of neuroblastic tumors associated with opsoclonus-myoclonus syndrome opens up the possibility for detection in peripheral blood. ( 26949993 )
2016
42
Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C. ( 27581084 )
2016
43
Progressive Myoclonus Epilepsy: The Gene-Empowered Era. ( 27694067 )
2016
44
Autosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesis. ( 27618929 )
2016
45
Footloose: Spinal Myoclonus after Myelomeningocele Repair. ( 26968832 )
2016
46
Myoclonus and seizures in Progressive Myoclonic Epilepsies: pharmacology and therapeutic trials. ( 27629998 )
2016
47
Opsoclonus-Myoclonus Syndrome in the Era of Neuronal Cell Surface Antibodies-Reply. ( 27159281 )
2016
48
Benign adult familial myoclonus epilepsy is a progressive disorder: no longer idiopathic generalized epilepsy. ( 26907167 )
2016
49
Primary pancreatic neuroblastoma presenting with opsoclonus-myoclonus syndrome. ( 26973724 )
2016
50
Distribution and Coexistence of Myoclonus and Dystonia as Clinical Predictors of SGCE Mutation Status: A Pilot Study. ( 27242657 )
2016

Variations for Myoclonus

ClinVar genetic disease variations for Myoclonus:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SLC2A1 NM_006516.2(SLC2A1): c.470dupG (p.Thr158Hisfs) duplication Pathogenic rs1057518821 GRCh38 Chromosome 1, 42930672: 42930672

Expression for Myoclonus

Search GEO for disease gene expression data for Myoclonus.

Pathways for Myoclonus

GO Terms for Myoclonus

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

id Name GO ID Score Top Affiliating Genes
1 positive regulation of protein ubiquitination GO:0031398 8.96 NHLRC1 PRICKLE1
2 glycogen biosynthetic process GO:0005978 8.62 EPM2A NHLRC1

Sources for Myoclonus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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