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DYT11
MCID: DYS193
MIFTS: 55

Dystonia 11, Myoclonic (DYT11)

Categories: Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Dystonia 11, Myoclonic

About this section

MalaCards integrated aliases for Dystonia 11, Myoclonic:

Name: Dystonia 11, Myoclonic 57 74
Myoclonic Dystonia 57 12 75 53 59 74 29 55 6 15 72
Myoclonus-Dystonia Syndrome 57 53 25 59 74
Dyt11 57 53 25 74
Alcohol-Responsive Dystonia 53 59 74
Myoclonus, Hereditary Essential 57 53
Hereditary Essential Myoclonus 53 59
Dystonia-11, Myoclonic 57 53
Myoclonus-Dystonia 53 25
Dystonia 11 53 25
Dystonia, Alcohol-Responsive 57
Dystonia, Alcohol Responsive 53
Dystonia, Myoclonic, Type 11 40
Myoclonic Dystonia 11 12
Dystonia, Myoclonic 13
Dystonia-11 74
Myoclonus 44
Dyt-Sgce 53

Characteristics:

Orphanet epidemiological data:

59
myoclonus-dystonia syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in childhood or adolescence (mean age of 6 years, range 1 to 18)
variable pattern of body involvement although symptoms may predominate in upper or lower body
symptoms are often responsive to alcohol
maternal imprinting of sgce results in reduced penetrance of the disorder when the mutation is inherited from the mother


HPO:

32
dystonia 11, myoclonic:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset incomplete penetrance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0090033 DOID:0090034
ICD10 33 G24.1
MESH via Orphanet 45 C536096
ICD10 via Orphanet 34 G24.1
UMLS via Orphanet 73 C1834570
Orphanet 59 ORPHA36899
MedGen 42 C1834570
UMLS 72 C1834570
Sources

Summaries for Dystonia 11, Myoclonic

About this section
NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 36899DefinitionMyoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.EpidemiologyThe estimated prevalence of MDS in Europe is 1/500,000.Clinical descriptionDisease onset usually occurs in the first or second decade of life. Myoclonus is usually the presenting manifestation and is described as swift ''lightning-like'' jerks that can rarely appear at rest but that are usually triggered by complex motor tasks such as drawing and writing. These movements mainly affect the neck, arms and trunk but can also rarely be seen in the legs or the larynx. In two thirds of cases, dystonia is also experienced in the form of focal or cervical dystonia (see these terms), which may be only mild and does not exacerbate with time. Postural and other forms of tremor have sometimes been reported. MDS is often associated with depression, anxiety, panic attacks, obsessive-compulsive behavior and personality disorders and alcohol abuse. Isolated torticollis is seen in extremely rare cases.EtiologyThe only known causative gene of MDS is the epsilon-sarcoglycan (SGCE) gene (7q21.3), encoding a transmembrane protein that is part of the dystrophin-associated glycoprotein complex found in skeletal and cardiac muscle. The epsilon-sarcoglycan protein is also abundant in monoaminergic neurons, cerebellar Purkinje cells, the cortex and the hippocampus of the brain. In one family with MDS, linkage to chromosome 18p has been reported (named DYT15), but the gene has not yet been identified.Diagnostic methodsDiagnosis is based on the presence of characteristic clinical symptoms. Neuroimaging studies are normal. Genetic molecular testing of SGCE can confirm the diagnosis.Differential diagnosisDifferential diagnosis includes cervical dystonia, Dopa-responsive dystonia, Tourette syndrome, familial cortical myoclonus, Wilson disease, spinocerebellar ataxia type 3 (SCA3) and type 14 (SCA14), ataxia with vitamin E deficiency, genetic disorders with myoclonus as a major component (e.g. Unverricht-Lundborg disease, Lafora disease) (see these terms) and other secondary forms of dystonia.Antenatal diagnosisPrenatal testing is possible in families where a disease-causing mutation is identified.Genetic counselingMDS is inherited in an autosomal dominant manner. However, the SGCE gene is maternally imprinted, therefore in most cases (95%) a patient who inherits the mutation from their mother will remain healthy and only those that inherit the mutation from their father will develop MDS. De novo mutations also occur. Genetic counseling is recommended in those with a known mutation.Management and treatmentTreatment plans are individualized to a patient's presenting symptoms. Benzodiazepines (clonazepam) and antiepileptic drugs (valproate, levetiracetam) are effective in relieving myoclonus and tremor, but patients should be carefully monitored. Similarly, alcohol frequently improves symptoms temporarily, but its long term use is not recommended. Injections of botulinum toxin can relieve focal and cervical dystonia. If these treatments fail or are insufficient, bilateral deep brain stimulation (DBS) of the internal globus pallidum (Gpi) and the central intermediate nucleus (VIM) of the thalamus have shown positive results in providing lasting relief from both myoclonus and dystonia. Gpi stimulation is often sufficient in treating MDS, and may be favored over VIM stimulation, which generally has very little effect on dystonia. In a staged surgical procedure, quadruple stimulation (VIM and Gpi) may also be considered in selected cases.PrognosisPatients with MDS have normal life-expectancy, but quality of life can be severely affected.Visit the Orphanet disease page for more resources.

MalaCards based summary : Dystonia 11, Myoclonic, also known as myoclonic dystonia, is related to dystonia 1, torsion, autosomal dominant and segmental dystonia, and has symptoms including tremor and torticollis. An important gene associated with Dystonia 11, Myoclonic is SGCE (Sarcoglycan Epsilon). The drugs Dexmedetomidine and Cisatracurium have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and thalamus, and related phenotypes are limb myoclonus and spinal myoclonus

Disease Ontology : 12 A dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles and dystonia, usually torticollis or writer's cramp, that typically responds to alcohol and has onset in the first or second decade of life.

Genetics Home Reference : 25 Myoclonus-dystonia is a movement disorder that typically affects the neck, torso, and arms. Individuals with this condition experience quick, involuntary muscle jerks or twitches (myoclonus). About half of individuals with myoclonus-dystonia develop dystonia, which is involuntary tensing of various muscles that causes unusual positioning. In myoclonus-dystonia, dystonia often affects one or both hands, causing writer's cramp, or the neck, causing the head to turn (torticollis). The movement problems usually first appear in childhood or early adolescence with the development of myoclonus. In most cases, the movement problems remain stable throughout life. In some adults, myoclonus improves with alcohol consumption, which can lead to affected individuals self-medicating and developing alcohol use disorder. People with myoclonus-dystonia often develop psychological disorders such as depression, anxiety, panic attacks, and obsessive-compulsive disorder (OCD).

OMIM : 57 Myoclonus-dystonia is a genetically heterogeneous disorder characterized by myoclonic jerks affecting mostly proximal muscles. Dystonia, usually torticollis or writer's cramp, is observed in most patients, but occasionally can be the only symptom of the disorder. Onset of the disorder is usually in the first or second decade. Symptoms often respond to alcohol, and patients may also have psychiatric abnormalities (Valente et al., 2003; Schule et al., 2004). (159900)

UniProtKB/Swiss-Prot : 74 Dystonia 11, myoclonic: A myoclonic dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT11 is characterized by involuntary lightning jerks and dystonic movements and postures alleviated by alcohol. Inheritance is autosomal dominant. The age of onset, pattern of body involvement, presence of myoclonus and response to alcohol are all variable.

Wikipedia : 75 Myoclonic dystonia or Myoclonus dystonia syndrome is a rare movement disorder that induces spontaneous... more...

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Related Diseases for Dystonia 11, Myoclonic

About this section

Diseases in the Dystonia 11, Myoclonic family:

Dystonia 15, Myoclonic Dystonia 26, Myoclonic

Diseases related to Dystonia 11, Myoclonic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 864)
# Related Disease Score Top Affiliating Genes
1 dystonia 1, torsion, autosomal dominant 30.8 TOR1A SGCE GCH1
2 segmental dystonia 30.4 TOR1A GCH1
3 cervical dystonia 30.4 TOR1A GCH1
4 torticollis 30.4 TOR1A DRD2
5 blepharospasm 30.1 TOR1A GCH1
6 dystonia, dopa-responsive 30.1 TOR1A SGCE GCH1
7 hemidystonia 30.0 TOR1A SGCE GCH1
8 movement disease 29.8 TOR1A SGCE GCH1 DRD2
9 focal dystonia 29.4 TOR1A SGCE DRD2 ANO3
10 dystonia 29.1 TOR1A SGCE KCTD17 GCH1 DYT15 DRD2
11 hypomyelinating leukodystrophy 28.5 POLR3B POLR3A
12 myoclonus, familial, 1 12.7
13 prickle1-related progressive myoclonus epilepsy with ataxia 12.6
14 progressive myoclonus epilepsy, lafora type 12.6
15 myoclonus, intractable, neonatal 12.5
16 myoclonus, familial, 2 12.5
17 myoclonus, cerebellar ataxia, and deafness 12.5
18 progressive myoclonus epilepsy 12.5
19 propriospinal myoclonus 12.4
20 myoclonus epilepsy 12.3
21 unverricht-lundborg syndrome 12.3
22 gosr2-related progressive myoclonus ataxia 12.3
23 myoclonus and ataxia 12.3
24 progressive encephalomyelitis with rigidity and myoclonus 12.2
25 branchial myoclonus with spastic paraparesis and cerebellar ataxia 12.2
26 early-onset progressive encephalopathy with migrant continuous myoclonus 12.2
27 spinal muscular atrophy with progressive myoclonic epilepsy 12.2
28 myoclonic epilepsy associated with ragged-red fibers 12.1
29 myoclonic epilepsy of unverricht and lundborg 12.1
30 neuraminidase deficiency 12.1
31 glycoproteinosis 12.1
32 dystonia 26, myoclonic 12.1
33 myoclonus epilepsy partial seizure 12.1
34 epilepsy and/or ataxia with myoclonus as major feature 12.1
35 non progressive epilepsy and/or ataxia with myoclonus as a major feature 12.1
36 rare disease with myoclonus as a major feature 12.1
37 obsolete: progressive epilepsy and/or ataxia with myoclonus as a major feature 12.1
38 rare genetic disease with myoclonus as a major feature 12.1
39 rare genetic myoclonus 12.1
40 rare myoclonus 12.1
41 myoclonic epilepsy of lafora 12.1
42 epilepsy, progressive myoclonic, 6 12.0
43 epilepsy, progressive myoclonic 7 12.0
44 myoclonic cerebellar dyssynergia 11.9
45 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 11.9
46 epilepsy, myoclonic juvenile 11.8
47 epileptic encephalopathy, early infantile, 6 11.8
48 epilepsy, progressive myoclonic, 1b 11.8
49 epilepsy, progressive myoclonic, 8 11.8
50 epilepsy, progressive myoclonic, 9 11.8

Graphical network of the top 20 diseases related to Dystonia 11, Myoclonic:



Diseases related to Dystonia 11, Myoclonic
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Symptoms & Phenotypes for Dystonia 11, Myoclonic

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Human phenotypes related to Dystonia 11, Myoclonic:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 limb myoclonus 59 32 hallmark (90%) Very frequent (99-80%) HP:0045084
2 spinal myoclonus 59 32 hallmark (90%) Very frequent (99-80%) HP:0010531
3 depressivity 59 32 frequent (33%) Frequent (79-30%) HP:0000716
4 anxiety 59 32 frequent (33%) Frequent (79-30%) HP:0000739
5 obsessive-compulsive behavior 59 32 frequent (33%) Frequent (79-30%) HP:0000722
6 writer's cramp 59 32 frequent (33%) Frequent (79-30%) HP:0002356
7 torticollis 59 32 frequent (33%) Frequent (79-30%) HP:0000473
8 personality disorder 59 32 frequent (33%) Frequent (79-30%) HP:0012075
9 panic attack 59 32 frequent (33%) Frequent (79-30%) HP:0025269
10 generalized hypotonia 32 occasional (7.5%) HP:0001290
11 myoclonus 59 32 Very frequent (99-80%) HP:0001336
12 tremor 32 HP:0001337
13 dystonia 59 Very frequent (99-80%)
14 agoraphobia 32 HP:0000756

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
tremor
writer's cramp
myoclonus, axial (predominantly in upper limbs, occurs at rest and increases with activity or changes in posture)
subcortical origin of the myoclonus based on neurophysiologic studies
dystonia (may spontaneously remit in childhood or adolescence)
more
Head And Neck Neck:
torticollis

Neurologic Behavioral Psychiatric Manifestations:
anxiety
agoraphobia
depression
obsessive-compulsive disorder
panic attacks

Clinical features from OMIM:

159900

UMLS symptoms related to Dystonia 11, Myoclonic:


tremor, torticollis
Sources

Drugs & Therapeutics for Dystonia 11, Myoclonic

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Drugs for Dystonia 11, Myoclonic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 136)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
2
Cisatracurium Approved Phase 4 96946-41-7
3
Sodium citrate Approved, Investigational Phase 4 68-04-2
4
Remifentanil Approved Phase 4 132875-61-7 60815
5
Atracurium Approved, Experimental, Investigational Phase 4 64228-79-1 47319
6
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
7
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
8
Clonazepam Approved, Illicit Phase 4 1622-61-3 2802
9
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
10
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
11
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
12
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
13
Etomidate Approved Phase 4 33125-97-2 36339 667484
14
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
15 Cholinergic Agents Phase 4
16 Adrenergic alpha-2 Receptor Agonists Phase 4
17 Analgesics, Non-Narcotic Phase 4
18 Pharmaceutical Solutions Phase 4
19 Adrenergic Agonists Phase 4
20 Citrate Phase 4
21 Neuromuscular Nondepolarizing Agents Phase 4
22 Neuromuscular Agents Phase 4
23 Adrenergic alpha-Agonists Phase 4
24 Neuromuscular Blocking Agents Phase 4
25 Adrenergic Agents Phase 4
26 Cholinergic Antagonists Phase 4
27 Anesthetics, Local Phase 4
28 Sodium Channel Blockers Phase 4
29 Diuretics, Potassium Sparing Phase 4
30 Anti-Arrhythmia Agents Phase 4
31 Antimanic Agents Phase 4
32 Tranquilizing Agents Phase 4
33 Anti-Anxiety Agents Phase 4
34 Adjuvants, Anesthesia Phase 4
35 GABA Agents Phase 4
36 Hypnotics and Sedatives Phase 4
37 GABA Modulators Phase 4
38 Anesthetics, General Phase 4
39 Psychotropic Drugs Phase 4
40 Anesthetics, Intravenous Phase 4
41
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
42
Brivaracetam Approved, Investigational Phase 3 357336-20-0 9837243
43
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
44
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
45
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
46
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
47 calcium channel blockers Phase 3
48 Calcium, Dietary Phase 3
49 Corticotropin-Releasing Hormone Phase 3
50 Immunoglobulin G Phase 3

Interventional clinical trials:

(show top 50) (show all 52)
# Name Status NCT ID Phase Drugs
1 Effects and Mechanism of Pretreatment With Dexmedetomidine to Etomidate Induce Myoclonus During General Anesthesia Induction Period Unknown status NCT02518789 Phase 4 Low-dose Dexmedetomidine;High-dose dexmedetomidine;normal saline;Etomidate;midazolam，fentanyl，rocuronium;propofol，remifentanil，cis atracurium
2 Effect of Pre-injection of Lidocaine on Myoclonus Induced by Induction With Etomidate in Elderly Patients During General Anesthesia Unknown status NCT02141737 Phase 4 Lidocaine Hydrochloride Injection;Etomidate Fat Emulsion Injection;normal saline;Midazolam Injection;Fentanyl Citrate Injection;Rocuronium Injection
3 The Benefit of Prophylactic Anticonvulsant in Post Cardiac Arrest Syndrome With Induced Mild Hypothermia Unknown status NCT01083784 Phase 4 Use of prophylactic anticonvulsants (valproate, clonazepam);Control group
4 Comparison of Induction Characteristics of Two Anaesthetic Agents-Etomidate Lipuro and Propofol Completed NCT02807610 Phase 4 Inj Etomidate;Injection Propofol;Placebo for Propofol
5 Comparative Study of the Efficiency of Zonisamide in Myoclonus Dystonia: A Monocentric , Randomized in Cross Over and Double Blind Study Versus Placebo Study Completed NCT01806805 Phase 3 zonegran;placebo
6 A Multicenter, Randomized, Double-blind, Placebo-controlled, Parallel Study to Evaluate the Efficacy and Safety of Brivaracetam Used as Adjunctive Treatment for 12 Weeks in Adolescent and Adult Patients (≥ 16 Years) With Genetically Ascertained Unverricht-Lundborg Disease Completed NCT00368251 Phase 3 BRV 2.5 mg;BRV 25 mg;BRV 50 mg
7 A Multi-center, Randomized, Double-blind, Placebo-controlled, Parallel Study to Evaluate the Efficacy and Safety of Brivaracetam Used as Adjunctive Treatment for 12 Weeks in Adolescent and Adult Patients (≥16 Years) With Genetically Ascertained Unverricht-Lundborg Disease Completed NCT00357669 Phase 3 Brivaracetam 25 mg;Brivaracetam 50 mg
8 A Pilot Study Randomized Trial of Intravenous Gammaglobulin Therapy for Patients With Neuroblastoma Associated Opsoclonus-Myoclonus-Ataxia Syndrome Treated With Chemotherapy and Prednisone Completed NCT00033293 Phase 3 cyclophosphamide;prednisone;Corticotropin-Releasing Hormone
9 Therapeutic Use of Piracetam for Treatment of Patients Suffering From Tardive Dyskinesia: a Double Blind, Placebo-Controlled Crossover Study Completed NCT00190008 Phase 3 piracetam
10 Multinational European Trial for Children With the Opsoclonus Myoclonus Syndrome / Dancing Eye Syndrome Recruiting NCT01868269 Phase 3 Dexamethasone acetate;dexamethasone and cyclophosphamide;dexamethasone and rituximab
11 Intravenous Immunoglobulin for Unverricht-Lundborg Disease: Single-patient Trial. Active, not recruiting NCT03351569 Phase 3 Intravenous immunoglobulin
12 Use of Rituximab in Opsoclonus-Myoclonus in Children With Neuroblastoma Unknown status NCT00202930 Phase 2 anti-CD20 (Rituximab)
13 Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg Type Unknown status NCT00639119 Phase 2 Ropinirole
14 A Phase I Clinical Trial of Rituximab for Pediatric Opsoclonus-Myoclonus Syndrome Completed NCT00244361 Phase 1, Phase 2 rituximab
15 Efficacy of Levetiracetam in Patients With Essential Tremor Completed NCT00620165 Phase 1, Phase 2 levetiracetam;placebo
16 A Phase I/II Randomized, Controlled Study of OGT 918 in Patients With Neuronopathic Gaucher Disease Completed NCT00041535 Phase 2 OGT 918
17 An Open Label, Multi-centered, Randomized Phase 2 Study to Evaluate the Safety, Tolerability and Bioactivity of Subcutaneous ACTH GeL in PAtients With Scleritis: The ATLAS Study Recruiting NCT03465111 Phase 2 ACTH (adrenocorticotropic hormone) gel
18 Non-myeloablative Hematopoietic Stem Cell Transplantation for Stiff Person Syndrome (SPS) and Anti-GAD Antibody Variants: Progressive Encephalomyelitis With Rigidity and Myoclonus (PERM), and Adult Onset Autoimmune Anti-GAD Positive Cerebellar Ataxia Active, not recruiting NCT02282514 Phase 1, Phase 2 Cyclophosphamide;Mesna;rATG;Methylprednisolone;G-CSF;Rituxan
19 Phase II Efficacy and Safety of Taro Pharmaceuticals' Pro-Drug T2000 (1,3-Dimethoxymethyl-5,5-Diphenyl-Barbituric Acid) In Patients With Myoclonus Dystonia: An Open Label Sequential Dose Escalation Study Terminated NCT00506012 Phase 2 T2000
20 Role of Methadone As Co-Opioid Analgesic in Cancer Patients Terminated NCT00558870 Phase 2 Morphine;Methadone
21 Treatment of Cortical Myoclonus With Repetitive Transcranial Magnetic Stimulation Completed NCT00001663 Phase 1
22 Open Label Study of Safety and Tolerability of Rituximab in Neuromyelitis Optica, Recurrent Transverse Myelitis and Recurrent Bilateral Simultaneous Optic Neuritis Completed NCT00501748 Phase 1 Rituximab
23 Cytokines as Biomarkers and Therapeutic Targets in Paraneoplastic Opsoclonus-Myoclonus Syndrome (OMS) Completed NCT00806182
24 Genotype/Phenotype Correlation of Movement Disorders and Other Neurological Diseases Completed NCT00001667
25 Adaptation Sensorimotrice, Cervelet et Mouvements Anormaux: Projet d'étude Oculomotrice Completed NCT01495897
26 A Trial of Ketogenic Diet in Lafora Disease Completed NCT00007124
27 Effects of Levetiracetam on Cortical Excitability in Humans Completed NCT00006191
28 Diagnostic Utility of Emergency Electroencephalography in Identifying Non-convulsive Seizure and Subclinical Status Epilepticus in Patients With Altered Mental Status Completed NCT01355211
29 Immunotherapy of the Paraneoplastic Syndromes Completed NCT00378326 Tacrolimus
30 A Prospective Cohort Study Evaluating Prognostic Indicators and Sequelae Following Severe Hand Foot and Mouth Disease Completed NCT02066714
31 Continuous Monitoring of Patients Treated With Opioids for Chronic Pain and Its Impact on Patient Safety. A Feasibility Trial. Completed NCT02068274
32 Parenteral Hydration in Advanced Cancer Patients - A Randomized Controlled Trial Completed NCT00423722 Saline;Saline
33 Natural History and Biospecimen Repository for Dystonia; Comprehensive Rating Tools for Cervical Dystonia; Validity & Reliability of Diagnostic Methods & Measures of Spasmodic Dysphonia Recruiting NCT01373424
34 Neuronal Correlates of Agency in Dystonia Recruiting NCT03351218
35 A Training Protocol for the Use of Botulinum Toxin in the Treatment of Neurological Disorders Recruiting NCT00001208
36 Prospective, Longitudinal, Observational Study of the Natural History and Functional Status of Patients With Lafora Disease Recruiting NCT03876522
37 Versailles Hospital Cardiac Arrest Registry Recruiting NCT03594318
38 Predictive Electrophysiological Score of the Neurological Prognosis Post Cardiac Arrest Recruiting NCT02886039
39 Epidemiology and Pathophysiology of Parkinsonism in the Caribbeans Recruiting NCT03368300
40 Noncontact Vital Sign Monitoring Using Impulse Radio Ultra-wideband (IR-UWB) Radar in Neonates and Children Recruiting NCT03622996
41 Phenotype/Genotype Correlations in Movement Disorders Recruiting NCT00018889
42 Neuroblastoma Biology Studies Recruiting NCT00904241
43 Biomarker for Gaucher Disease an International, Multicenter, Epidemiological Protocol Recruiting NCT01331642
44 Dystonia Genotype-Phenotype Correlation: A Study to Identify Additional Genetic Associations That Contribute to Specific Dystonic Phenotypes Recruiting NCT03428009
45 Natural History Study of Batten's CLN6 Disease Recruiting NCT03285425
46 Biochemical Makers for Outcome Prognostication After Pediatric out-of Hospital Cardiac Arrest: Observational Cohort Trial Recruiting NCT03873662
47 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
48 Biomarker for Farber Disease - An International, Multicenter, Epidemiological Protocol Recruiting NCT02298634
49 Lyso-Gb1 as Long-term Prognostic Biomarker in Gaucher Disease - an International Multicenter Epidemiological Study (LYSO-PROVE) to Determine the Prognostic Value of Lyso-Gb1 for Monitoring the Progress of Gaucher Disease Recruiting NCT02416661
50 Biomarker for Mucolipidosis Disorder Type I, II, III, IV AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT02298673

Search NIH Clinical Center for Dystonia 11, Myoclonic

Cochrane evidence based reviews: myoclonus

Sources

Genetic Tests for Dystonia 11, Myoclonic

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Genetic tests related to Dystonia 11, Myoclonic:

# Genetic test Affiliating Genes
1 Myoclonic Dystonia 29 SGCE
Sources

Anatomical Context for Dystonia 11, Myoclonic

About this section

MalaCards organs/tissues related to Dystonia 11, Myoclonic:

41
Brain, Testes, Thalamus, Cortex, Eye, Heart
Sources

Publications for Dystonia 11, Myoclonic

About this section

Articles related to Dystonia 11, Myoclonic:

(show top 50) (show all 105)
# Title Authors PMID Year
1
The epsilon-sarcoglycan gene in myoclonic syndromes. 38 8 71
15728306 2005
2
Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia. 8 71
17101905 2006
3
Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene. 8 71
16240355 2005
4
Hereditary myoclonus-dystonia associated with epilepsy. 8 71
12821748 2003
5
A novel mutation in the epsilon-sarcoglycan gene causing myoclonus-dystonia syndrome. 8 71
12743249 2003
6
Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations. 8 71
12402271 2002
7
Inherited myoclonus-dystonia: how many causative genes and clinical phenotypes? 8 71
12391338 2002
8
Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. 8 71
11528394 2001
9
Evaluation of the role of the D2 dopamine receptor in myoclonus dystonia. 8 71
10716258 2000
10
Association of a missense change in the D2 dopamine receptor with myoclonus dystonia. 8 71
10220438 1999
11
Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes. 9 38 8
16227522 2006
12
Mutations in the epsilon-sarcoglycan gene found to be uncommon in seven myoclonus-dystonia families. 9 71
12874409 2003
13
The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted. 9 8
12634861 2003
14
Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype. 9 8
12325078 2002
15
A major locus for several phenotypes of myoclonus--dystonia on chromosome 7q. 38 8
11342690 2001
16
D2 dopamine receptor gene in myoclonic dystonia and essential myoclonus. 38 8
10894231 2000
17
Linkage studies in alcohol-responsive myoclonic dystonia. 38 8
8813214 1996
18
Alcohol-responsive myoclonic dystonia in a large family: dominant inheritance and phenotypic variation. 38 8
2259350 1990
19
Hereditary myoclonic dystonia, hereditary torsion dystonia and hereditary essential myoclonus: an area of confusion. 38 8
3400498 1988
20
Effect of pallidal deep brain stimulation on psychiatric symptoms in myoclonus-dystonia due to ε-sarcoglycan mutations. 8
21825253 2011
21
Bilateral deep brain stimulation of the pallidum for myoclonus-dystonia due to ε-sarcoglycan mutations: a pilot study. 8
21220679 2011
22
EFNS guidelines on diagnosis and treatment of primary dystonias. 71
20482602 2011
23
Myoclonus-dystonia due to maternal uniparental disomy. 8
18852357 2008
24
Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations. 8
18362280 2008
25
Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene. 8
17702041 2007
26
Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers. 8
17296918 2007
27
Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia. 8
16534121 2006
28
Genetic heterogeneity in ten families with myoclonus-dystonia. 8
15258227 2004
29
Hereditary Dystonia Overview 71
20301334 2003
30
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity. 8
14502674 2003
31
SGCE Myoclonus-Dystonia 71
20301587 2003
32
Clinical findings of a myoclonus-dystonia family with two distinct mutations. 71
12391355 2002
33
Phenotypic features of myoclonus-dystonia in three kindreds. 8
12391346 2002
34
The genetics of primary dystonias and related disorders. 8
11912106 2002
35
Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism. 71
11523564 2001
36
Inherited Myoclonus-dystonia syndrome: narrowing the 7q21-q31 locus in German families. 8
11198282 2001
37
A major locus for myoclonus-dystonia maps to chromosome 7q in eight families. 8
11022010 2000
38
Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31. 8
10554001 1999
39
Clinical and molecular genetics of primary dystonias. 8
10737119 1998
40
The gene for familial dystonia with myoclonic jerks responsive to alcohol is not located on the distal end of 9q. 8
8004804 1994
41
The genetics of primary torsion dystonia. 8
2404852 1990
42
Myoclonus and dystonia: a family study. 8
3400497 1988
43
Familial essential myoclonus. 8
4434166 1974
44
Hereditary essential myoclonus. 8
6058147 1967
45
Hereditary essential myoclonus. 8
5925999 1966
46
PARAMYOCLONUS MULTIPLEX (FRIEDREICH). CLINICAL AND GENETICAL ASPECTS. 8
14062193 1963
47
Nocturnal myoclonus. 8
13085198 1953
48
Familial myoclonus; report of four cases with electroencephalograms. 8
18118778 1949
49
A novel heterozygous ANO3 mutation responsible for myoclonic dystonia. 38
31228765 2019
50
Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia. 38
31368241 2019
Sources

Variations for Dystonia 11, Myoclonic

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ClinVar genetic disease variations for Dystonia 11, Myoclonic:

6 (show top 50) (show all 112)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SGCE NM_003919.3(SGCE): c.619del (p.Arg207fs) deletion Pathogenic rs1554352819 7:94248113-94248113 7:94618801-94618801
2 SGCE deletion Pathogenic
3 SGCE NM_003919.3(SGCE): c.783dup (p.Phe262fs) duplication Pathogenic rs1189469219 7:94232644-94232644 7:94603332-94603332
4 SGCE NM_003919.3(SGCE): c.470del (p.Pro157fs) deletion Pathogenic rs1554353106 7:94248262-94248262 7:94618950-94618950
5 SGCE NC_000007.13: g.(?_94024324)_(94285430_?)del deletion Pathogenic 7:94024324-94285430 7:94395012-94656118
6 SGCE NM_003919.3(SGCE): c.300del (p.Trp100fs) deletion Pathogenic rs1554358727 7:94257604-94257604 7:94628292-94628292
7 SGCE NM_003919.3(SGCE): c.559del (p.Ala186_Val187insTer) deletion Pathogenic rs1554352906 7:94248173-94248173 7:94618861-94618861
8 SGCE NM_003919.3(SGCE): c.795del (p.Gln265fs) deletion Pathogenic rs1554345077 7:94232632-94232632 7:94603320-94603320
9 SGCE NM_003919.3(SGCE): c.733C> T (p.Gln245Ter) single nucleotide variant Pathogenic rs1554345162 7:94232694-94232694 7:94603382-94603382
10 SGCE NM_003919.3(SGCE): c.727C> T (p.Gln243Ter) single nucleotide variant Pathogenic rs1554345170 7:94232700-94232700 7:94603388-94603388
11 SGCE SGCE, 1-BP DEL, 974C deletion Pathogenic
12 SGCE NM_003919.3(SGCE): c.1114C> T (p.Arg372Ter) single nucleotide variant Pathogenic rs121908492 7:94228226-94228226 7:94598914-94598914
13 SGCE NM_003919.3(SGCE): c.289C> T (p.Arg97Ter) single nucleotide variant Pathogenic rs121908489 7:94257615-94257615 7:94628303-94628303
14 SGCE NM_003919.3(SGCE): c.304C> T (p.Arg102Ter) single nucleotide variant Pathogenic rs121908490 7:94257600-94257600 7:94628288-94628288
15 SGCE SGCE, 1-BP DEL, 565A deletion Pathogenic
16 SGCE SGCE, 97-BP DEL deletion Pathogenic
17 SGCE NM_003919.3(SGCE): c.835_839del (p.Thr279fs) deletion Pathogenic rs863223283 7:94230156-94230160 7:94600844-94600848
18 SGCE NM_003919.3(SGCE): c.587T> G (p.Leu196Arg) single nucleotide variant Pathogenic rs121908491 7:94248145-94248145 7:94618833-94618833
19 SGCE NM_003919.3(SGCE): c.884dup (p.Leu295fs) duplication Pathogenic rs863223284 7:94230111-94230111 7:94600799-94600799
20 SGCE NM_003919.2(SGCE): c.464_662del deletion Pathogenic 7:94233566-94248585 7:94604254-94619273
21 SGCE SGCE, 6,872-BP DEL, EX6DEL deletion Pathogenic
22 SGCE NM_003919.3(SGCE): c.619_620del (p.Arg207fs) deletion Pathogenic rs863223285 7:94248112-94248113 7:94618800-94618801
23 SGCE NM_003919.3(SGCE): c.709C> T (p.Arg237Ter) single nucleotide variant Pathogenic rs398123812 7:94232718-94232718 7:94603406-94603406
24 SGCE NM_003919.3(SGCE): c.771_772del (p.Thr257_Cys258insTer) deletion Pathogenic rs794727794 7:94232655-94232656 7:94603343-94603344
25 SGCE NC_000007.13: g.(?_94257494)_(94257691_?)del deletion Pathogenic 7:94257494-94257691 7:94628182-94628379
26 SGCE NM_003919.3(SGCE): c.841C> T (p.Gln281Ter) single nucleotide variant Pathogenic 7:94230154-94230154 7:94600842-94600842
27 SGCE NM_003919.3(SGCE): c.610del (p.Ala204fs) deletion Pathogenic 7:94248122-94248122 7:94618811-94618811
28 SGCE NM_003919.3(SGCE): c.440_443TAAT[1] (p.Ile148_Asn149insTer) short repeat Pathogenic 7:94252653-94252656 7:94623341-94623344
29 SGCE NM_003919.3(SGCE): c.463+1G> A single nucleotide variant Pathogenic 7:94252636-94252636 7:94623324-94623324
30 SGCE NM_003919.3(SGCE): c.810G> A (p.Trp270Ter) single nucleotide variant Pathogenic/Likely pathogenic 7:94232617-94232617 7:94603305-94603305
31 SGCE NM_003919.3(SGCE): c.434_442dup (p.Asn145_Ile147dup) duplication Likely pathogenic 7:94252658-94252666 7:94623347-94623355
32 SGCE NM_003919.3(SGCE): c.549_552del (p.Phe183fs) deletion Likely pathogenic rs1554352952 7:94248180-94248183 7:94618868-94618871
33 SGCE NM_003919.3(SGCE): c.825+1_825+2del deletion Likely pathogenic rs1554345052 7:94232600-94232601 7:94603288-94603289
34 SGCE NM_003919.3(SGCE): c.551T> C (p.Leu184Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs1064794321 7:94248181-94248181 7:94618869-94618869
35 SGCE NM_003919.3(SGCE): c.436T> A (p.Leu146Met) single nucleotide variant Conflicting interpretations of pathogenicity rs752074255 7:94252664-94252664 7:94623352-94623352
36 SGCE NM_003919.3(SGCE): c.606A> G (p.Thr202=) single nucleotide variant Conflicting interpretations of pathogenicity rs148979783 7:94248126-94248126 7:94618814-94618814
37 SGCE NM_003919.3(SGCE): c.55G> A (p.Gly19Ser) single nucleotide variant Uncertain significance rs767335346 7:94285356-94285356 7:94656044-94656044
38 DRD2 NM_000795.4(DRD2): c.460G> A (p.Val154Ile) single nucleotide variant Uncertain significance rs104894220 11:113287657-113287657 11:113416935-113416935
39 SGCE NM_003919.3(SGCE): c.1025G> A (p.Arg342Gln) single nucleotide variant Uncertain significance rs764696852 7:94229970-94229970 7:94600658-94600658
40 SGCE NM_003919.3(SGCE): c.712G> C (p.Glu238Gln) single nucleotide variant Uncertain significance rs200035109 7:94232715-94232715 7:94603403-94603403
41 SGCE NM_003919.3(SGCE): c.556G> A (p.Ala186Thr) single nucleotide variant Uncertain significance rs746585235 7:94248176-94248176 7:94618864-94618864
42 SGCE NM_003919.3(SGCE): c.536T> C (p.Val179Ala) single nucleotide variant Uncertain significance rs886062521 7:94248196-94248196 7:94618884-94618884
43 SGCE NM_003919.3(SGCE): c.1285C> G (p.Gln429Glu) single nucleotide variant Uncertain significance 7:94218013-94218013 7:94588701-94588701
44 SGCE NM_003919.3(SGCE): c.1028G> A (p.Arg343Gln) single nucleotide variant Uncertain significance 7:94229967-94229967 7:94600655-94600655
45 SGCE NM_003919.3(SGCE): c.5A> C (p.Gln2Pro) single nucleotide variant Uncertain significance 7:94285406-94285406 7:94656094-94656094
46 SGCE NM_003919.3(SGCE): c.961C> A (p.Leu321Met) single nucleotide variant Uncertain significance 7:94230034-94230034 7:94600722-94600722
47 SGCE NM_003919.3(SGCE): c.506T> C (p.Met169Thr) single nucleotide variant Uncertain significance 7:94248226-94248226 7:94618914-94618914
48 SGCE NM_003919.3(SGCE): c.856C> G (p.Gln286Glu) single nucleotide variant Uncertain significance 7:94230139-94230139 7:94600827-94600827
49 SGCE NM_003919.3(SGCE): c.1177G> A (p.Val393Met) single nucleotide variant Uncertain significance 7:94228163-94228163 7:94598851-94598851
50 SGCE NM_003919.3(SGCE): c.1054C> A (p.Gln352Lys) single nucleotide variant Uncertain significance 7:94229019-94229019 7:94599707-94599707

UniProtKB/Swiss-Prot genetic disease variations for Dystonia 11, Myoclonic:

74 (show all 13)
# Symbol AA change Variation ID SNP ID
1 SGCE p.Leu196Arg VAR_026750 rs121908491
2 SGCE p.Thr36Arg VAR_066732
3 SGCE p.His60Pro VAR_066733
4 SGCE p.His60Arg VAR_066734
5 SGCE p.Met92Thr VAR_066735
6 SGCE p.Trp100Gly VAR_066736
7 SGCE p.Gly112Arg VAR_066737
8 SGCE p.Tyr115Cys VAR_066738
9 SGCE p.Leu175Ser VAR_066739
10 SGCE p.Ser177Cys VAR_066740
11 SGCE p.Leu184Pro VAR_066741 rs106479432
12 SGCE p.Trp270Arg VAR_066742
13 SGCE p.Cys271Tyr VAR_066743 rs372686312

Copy number variations for Dystonia 11, Myoclonic from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 229165 7 88000000 97900000 Deletion DLX5 Myoclonus-dystonia
2 229166 7 88000000 97900000 Deletion DLX6 Myoclonus-dystonia
3 229167 7 88000000 97900000 Deletion KRIT1 Myoclonus-dystonia
4 229168 7 88000000 97900000 Deletion SHFM1 Myoclonus-dystonia
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Expression for Dystonia 11, Myoclonic

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Search GEO for disease gene expression data for Dystonia 11, Myoclonic.
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Pathways for Dystonia 11, Myoclonic

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GO Terms for Dystonia 11, Myoclonic

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Cellular components related to Dystonia 11, Myoclonic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase III complex GO:0005666 8.62 POLR3B POLR3A

Biological processes related to Dystonia 11, Myoclonic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein homooligomerization GO:0051260 9.43 TOR1A KCTD17 GCH1
2 transcription by RNA polymerase III GO:0006383 9.32 POLR3B POLR3A
3 negative regulation of blood pressure GO:0045776 9.16 GCH1 DRD2
4 positive regulation of interferon-beta production GO:0032728 8.96 POLR3B POLR3A
5 regulation of dopamine uptake involved in synaptic transmission GO:0051584 8.62 TOR1A DRD2

Molecular functions related to Dystonia 11, Myoclonic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-directed 5'-3' RNA polymerase activity GO:0003899 8.96 POLR3B POLR3A
2 RNA polymerase III activity GO:0001056 8.62 POLR3B POLR3A
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Sources for Dystonia 11, Myoclonic

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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