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DYT11
MCID: DYS193
MIFTS: 56

Dystonia 11, Myoclonic (DYT11)

Categories: Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Dystonia 11, Myoclonic

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MalaCards integrated aliases for Dystonia 11, Myoclonic:

Name: Dystonia 11, Myoclonic 56 73
Myoclonic Dystonia 56 12 74 52 58 73 29 54 6 15 71
Myoclonus-Dystonia Syndrome 56 52 25 58 73
Dyt11 56 52 25 73
Alcohol-Responsive Dystonia 52 58 73
Myoclonus, Hereditary Essential 56 52
Hereditary Essential Myoclonus 52 58
Dystonia-11, Myoclonic 56 52
Myoclonus-Dystonia 52 25
Dystonia 11 52 25
Dystonia, Alcohol-Responsive 56
Dystonia, Alcohol Responsive 52
Dystonia, Myoclonic, Type 11 39
Myoclonic Dystonia 11 12
Dystonia, Myoclonic 13
Dystonia-11 73
Myoclonus 43
Dyt-Sgce 52

Characteristics:

Orphanet epidemiological data:

58
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:

56
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:

31
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: 32 33
Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0090033 DOID:0090034
OMIM 56 159900
OMIM Phenotypic Series 56 PS128100
ICD10 32 G24.1
MESH via Orphanet 44 C536096
ICD10 via Orphanet 33 G24.1
UMLS via Orphanet 72 C1834570
Orphanet 58 ORPHA36899
MedGen 41 C1834570
UMLS 71 C1834570
Sources

Summaries for Dystonia 11, Myoclonic

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NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 36899 Definition Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks. Epidemiology The estimated prevalence of MDS in Europe is 1/500,000. Clinical description Disease 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. Etiology The 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 methods Diagnosis is based on the presence of characteristic clinical symptoms. Neuroimaging studies are normal. Genetic molecular testing of SGCE can confirm the diagnosis. Differential diagnosis Differential 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 diagnosis Prenatal testing is possible in families where a disease-causing mutation is identified. Genetic counseling MDS 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 treatment Treatment 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. Prognosis Patients 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 sgce myoclonus-dystonia and dystonia 3, torsion, x-linked, and has symptoms including tremor and torticollis. An important gene associated with Dystonia 11, Myoclonic is SGCE (Sarcoglycan Epsilon). The drugs Cisatracurium and Remifentanil have been mentioned in the context of this disorder. Affiliated tissues include brain, thyroid and testes, 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 : 56 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 : 73 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 : 74 Myoclonic dystonia or Myoclonus dystonia syndrome is a rare movement disorder that induces spontaneous... more...

Sources

Related Diseases for Dystonia 11, Myoclonic

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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 887)
# Related Disease Score Top Affiliating Genes
1 sgce myoclonus-dystonia 32.6 SGCE DRD2
2 dystonia 3, torsion, x-linked 31.2 TOR1A THAP1 SGCE PNKD GCH1 ATP1A3
3 hereditary dystonia 30.7 GCH1 ATP1A3
4 torticollis 30.6 TOR1A DRD2
5 obsessive-compulsive disorder 30.6 TOR1A SGCE GCH1 DRD2
6 lingual-facial-buccal dyskinesia 30.5 JRK DRD2
7 spasmodic dysphonia 30.3 TOR1A THAP1
8 dystonia 1, torsion, autosomal dominant 30.2 TOR1A THAP1 SGCE PNKD GNAL GCH1
9 dyskinetic cerebral palsy 29.9 PNKD JRK
10 conversion disorder 29.9 PNKD GCH1
11 schizophreniform disorder 29.9 PRODH DRD2
12 cervical dystonia 29.8 TOR1A THAP1 SGCE JRK GNAL GCH1
13 dystonia, dopa-responsive 29.8 TOR1A THAP1 SGCE PNKD GCH1 ATP1A3
14 aceruloplasminemia 29.7 TTPA THAP1 PANK2 ATP1A3
15 hereditary ataxia 29.7 TTPA POLR3B ATP1A3
16 choreatic disease 29.5 SGCE PNKD PANK2 JRK GCH1 DRD2
17 segmental dystonia 29.2 TOR1A THAP1 SGCE PNKD GNAL GCH1
18 hemidystonia 28.9 TOR1A THAP1 SGCE PNKD JRK GNAL
19 multifocal dystonia 28.7 TOR1A THAP1 SGCE PNKD JRK GNAL
20 blepharospasm 28.7 TOR1A THAP1 SGCE PANK2 JRK GNAL
21 focal dystonia 28.7 TOR1A THAP1 SGCE PANK2 JRK GNAL
22 dystonia 28.3 VIM TTPA TOR1A THAP1 SGCE PNKD
23 movement disease 28.0 VIM TOR1A THAP1 SGCE PNKD PANK2
24 focal hand dystonia 27.8 VIM TOR1A THAP1 SGCE PANK2 JRK
25 myoclonus, familial, 1 12.7
26 prickle1-related progressive myoclonus epilepsy with ataxia 12.6
27 progressive myoclonus epilepsy, lafora type 12.6
28 progressive myoclonus epilepsy 6 12.5
29 myoclonus, familial, 2 12.5
30 myoclonus, intractable, neonatal 12.5
31 myoclonus, cerebellar ataxia, and deafness 12.5
32 progressive myoclonus epilepsy 7 12.5
33 progressive myoclonus epilepsy 12.5
34 progressive myoclonus epilepsy 4 12.4
35 progressive myoclonus epilepsy 3 12.4
36 propriospinal myoclonus 12.4
37 progressive myoclonus epilepsy 8 12.3
38 progressive myoclonus epilepsy 9 12.3
39 progressive myoclonus epilepsy 10 12.3
40 unverricht-lundborg syndrome 12.3
41 myoclonus epilepsy 12.3
42 spinal muscular atrophy with progressive myoclonic epilepsy 12.2
43 myoclonus and ataxia 12.2
44 progressive encephalomyelitis with rigidity and myoclonus 12.2
45 branchial myoclonus with spastic paraparesis and cerebellar ataxia 12.2
46 early-onset progressive encephalopathy with migrant continuous myoclonus 12.2
47 myoclonic epilepsy associated with ragged-red fibers 12.1
48 myoclonic epilepsy of unverricht and lundborg 12.1
49 myoclonic epilepsy of lafora 12.1
50 neuraminidase deficiency 12.1

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



Diseases related to Dystonia 11, Myoclonic
Sources

Symptoms & Phenotypes for Dystonia 11, Myoclonic

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Human phenotypes related to Dystonia 11, Myoclonic:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 limb myoclonus 58 31 hallmark (90%) Very frequent (99-80%) HP:0045084
2 spinal myoclonus 58 31 hallmark (90%) Very frequent (99-80%) HP:0010531
3 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
4 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
5 obsessive-compulsive behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000722
6 writer's cramp 58 31 frequent (33%) Frequent (79-30%) HP:0002356
7 torticollis 58 31 frequent (33%) Frequent (79-30%) HP:0000473
8 personality disorder 58 31 frequent (33%) Frequent (79-30%) HP:0012075
9 panic attack 58 31 frequent (33%) Frequent (79-30%) HP:0025269
10 generalized hypotonia 31 occasional (7.5%) HP:0001290
11 myoclonus 58 31 Very frequent (99-80%) HP:0001336
12 tremor 31 HP:0001337
13 dystonia 58 Very frequent (99-80%)
14 agoraphobia 31 HP:0000756

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Dystonia 11, Myoclonic:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.93 ATP1A3 DRD2 GNAL PANK2 PNKD PRODH
2 muscle MP:0005369 9.5 ATP1A3 DRD2 PANK2 SGCE TOR1A TTPA
3 nervous system MP:0003631 9.4 ATP1A3 DRD2 GCH1 PANK2 PNKD PRODH
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
Cisatracurium Approved Phase 4 96946-41-7
2
Remifentanil Approved Phase 4 132875-61-7 60815
3
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
4
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
5
Sodium citrate Approved, Investigational Phase 4 68-04-2
6
Atracurium Approved, Experimental, Investigational Phase 4 64228-79-1 47319
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
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
12
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
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 Agonists Phase 4
17 Adrenergic alpha-2 Receptor Agonists Phase 4
18 Analgesics, Non-Narcotic Phase 4
19 Citrate Phase 4
20 Neuromuscular Agents Phase 4
21 Neuromuscular Nondepolarizing Agents Phase 4
22 Pharmaceutical Solutions Phase 4
23 Neuromuscular Blocking Agents Phase 4
24 Cholinergic Antagonists Phase 4
25 Adrenergic Agents Phase 4
26 Anesthetics, Local Phase 4
27 Anti-Arrhythmia Agents Phase 4
28 Sodium Channel Blockers Phase 4
29 Diuretics, Potassium Sparing Phase 4
30 Antimanic Agents Phase 4
31 Tranquilizing Agents Phase 4
32 Anti-Anxiety Agents Phase 4
33 Psychotropic Drugs Phase 4
34 Adjuvants, Anesthesia Phase 4
35 Anesthetics, General Phase 4
36 GABA Agents Phase 4
37 Hypnotics and Sedatives Phase 4
38 Anesthetics, Intravenous Phase 4
39 GABA Modulators Phase 4
40
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
41
Brivaracetam Approved, Investigational Phase 3 357336-20-0 9837243
42
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
43
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
44
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
45
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
46 Calcium, Dietary Phase 3
47 calcium channel blockers Phase 3
48 Rho(D) Immune Globulin Phase 3
49 Immunoglobulins, Intravenous Phase 3
50 gamma-Globulins Phase 3

Interventional clinical trials:

(show top 50) (show all 56)
# 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 Intravenous Immunoglobulin for Unverricht-Lundborg Disease: Single-patient Trial. Unknown status NCT03351569 Phase 3 Intravenous immunoglobulin
6 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
7 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
8 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
9 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
10 Therapeutic Use of Piracetam for Treatment of Patients Suffering From Tardive Dyskinesia: a Double Blind, Placebo-Controlled Crossover Study Completed NCT00190008 Phase 3 piracetam
11 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
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 Predictive Electrophysiological Score of the Neurological Prognosis Post Cardiac Arrest Unknown status NCT02886039
24 Cytokines as Biomarkers and Therapeutic Targets in Paraneoplastic Opsoclonus-Myoclonus Syndrome (OMS) Completed NCT00806182
25 Genotype/Phenotype Correlation of Movement Disorders and Other Neurological Diseases Completed NCT00001667
26 Adaptation Sensorimotrice, Cervelet et Mouvements Anormaux: Projet d'étude Oculomotrice Completed NCT01495897
27 A Trial of Ketogenic Diet in Lafora Disease Completed NCT00007124
28 Effects of Levetiracetam on Cortical Excitability in Humans Completed NCT00006191
29 Diagnostic Utility of Emergency Electroencephalography in Identifying Non-convulsive Seizure and Subclinical Status Epilepticus in Patients With Altered Mental Status Completed NCT01355211
30 Immunotherapy of the Paraneoplastic Syndromes Completed NCT00378326 Tacrolimus
31 A Prospective Cohort Study Evaluating Prognostic Indicators and Sequelae Following Severe Hand Foot and Mouth Disease Completed NCT02066714
32 Continuous Monitoring of Patients Treated With Opioids for Chronic Pain and Its Impact on Patient Safety. A Feasibility Trial. Completed NCT02068274
33 Parenteral Hydration in Advanced Cancer Patients - A Randomized Controlled Trial Completed NCT00423722 Saline;Saline
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 Phenotype/Genotype Correlations in Movement Disorders Recruiting NCT00018889
39 Noncontact Vital Sign Monitoring Using Impulse Radio Ultra-wideband (IR-UWB) Radar in Neonates and Children Recruiting NCT03622996
40 Epidemiology and Pathophysiology of Parkinsonism in the Caribbeans Recruiting NCT03368300
41 Neuroblastoma Biology Studies Recruiting NCT00904241
42 Dystonia Genotype-Phenotype Correlation: A Study to Identify Additional Genetic Associations That Contribute to Specific Dystonic Phenotypes Recruiting NCT03428009
43 Natural History Study of Batten's CLN6 Disease Recruiting NCT03285425
44 Biomarker for Gaucher Disease an International, Multicenter, Epidemiological Protocol Recruiting NCT01331642
45 Investigation of Neurodegeneration in Glycosphingolipid Storage Disorders Recruiting NCT00029965
46 Biomarker for Farber Disease - An International, Multicenter, Epidemiological Protocol Recruiting NCT02298634
47 Biochemical Makers for Outcome Prognostication After Pediatric out-of Hospital Cardiac Arrest: Observational Cohort Trial Recruiting NCT03873662
48 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
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 Validation of the FOUR Coma Scale in Russia. - a Prospective Observational Multi-center Cohort Study Recruiting NCT04018989

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:

40
Brain, Thyroid, Testes, Thalamus, Cortex, Heart, Kidney
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. 61 56 6
15728306 2005
2
Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia. 56 6
17101905 2006
3
Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene. 56 6
16240355 2005
4
Hereditary myoclonus-dystonia associated with epilepsy. 56 6
12821748 2003
5
A novel mutation in the epsilon-sarcoglycan gene causing myoclonus-dystonia syndrome. 56 6
12743249 2003
6
Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations. 56 6
12402271 2002
7
Inherited myoclonus-dystonia: how many causative genes and clinical phenotypes? 56 6
12391338 2002
8
Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. 56 6
11528394 2001
9
Evaluation of the role of the D2 dopamine receptor in myoclonus dystonia. 56 6
10716258 2000
10
Association of a missense change in the D2 dopamine receptor with myoclonus dystonia. 56 6
10220438 1999
11
Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes. 54 61 56
16227522 2006
12
Mutations in the epsilon-sarcoglycan gene found to be uncommon in seven myoclonus-dystonia families. 54 6
12874409 2003
13
The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted. 54 56
12634861 2003
14
Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype. 54 56
12325078 2002
15
A major locus for several phenotypes of myoclonus--dystonia on chromosome 7q. 61 56
11342690 2001
16
D2 dopamine receptor gene in myoclonic dystonia and essential myoclonus. 61 56
10894231 2000
17
Linkage studies in alcohol-responsive myoclonic dystonia. 61 56
8813214 1996
18
Alcohol-responsive myoclonic dystonia in a large family: dominant inheritance and phenotypic variation. 61 56
2259350 1990
19
Hereditary myoclonic dystonia, hereditary torsion dystonia and hereditary essential myoclonus: an area of confusion. 61 56
3400498 1988
20
Effect of pallidal deep brain stimulation on psychiatric symptoms in myoclonus-dystonia due to ε-sarcoglycan mutations. 56
21825253 2011
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Bilateral deep brain stimulation of the pallidum for myoclonus-dystonia due to ε-sarcoglycan mutations: a pilot study. 56
21220679 2011
22
EFNS guidelines on diagnosis and treatment of primary dystonias. 6
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23
Myoclonus-dystonia due to maternal uniparental disomy. 56
18852357 2008
24
Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations. 56
18362280 2008
25
Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene. 56
17702041 2007
26
Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers. 56
17296918 2007
27
Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia. 56
16534121 2006
28
Genetic heterogeneity in ten families with myoclonus-dystonia. 56
15258227 2004
29
Hereditary Dystonia Overview 6
20301334 2003
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Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity. 56
14502674 2003
31
SGCE Myoclonus-Dystonia 6
20301587 2003
32
Clinical findings of a myoclonus-dystonia family with two distinct mutations. 6
12391355 2002
33
Phenotypic features of myoclonus-dystonia in three kindreds. 56
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The genetics of primary dystonias and related disorders. 56
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Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism. 6
11523564 2001
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Inherited Myoclonus-dystonia syndrome: narrowing the 7q21-q31 locus in German families. 56
11198282 2001
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A major locus for myoclonus-dystonia maps to chromosome 7q in eight families. 56
11022010 2000
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Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31. 56
10554001 1999
39
Clinical and molecular genetics of primary dystonias. 56
10737119 1998
40
The gene for familial dystonia with myoclonic jerks responsive to alcohol is not located on the distal end of 9q. 56
8004804 1994
41
The genetics of primary torsion dystonia. 56
2404852 1990
42
Myoclonus and dystonia: a family study. 56
3400497 1988
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Familial essential myoclonus. 56
4434166 1974
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Hereditary essential myoclonus. 56
6058147 1967
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Hereditary essential myoclonus. 56
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PARAMYOCLONUS MULTIPLEX (FRIEDREICH). CLINICAL AND GENETICAL ASPECTS. 56
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Nocturnal myoclonus. 56
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Familial myoclonus; report of four cases with electroencephalograms. 56
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Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia. 61
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A novel heterozygous ANO3 mutation responsible for myoclonic dystonia. 61
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Sources

Variations for Dystonia 11, Myoclonic

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ClinVar genetic disease variations for Dystonia 11, Myoclonic:

6 (show top 50) (show all 109) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SGCE NM_003919.3(SGCE):c.771_772del (p.Thr257_Cys258insTer)deletion Pathogenic 198162 rs794727794 7:94232655-94232656 7:94603343-94603344
2 SGCE NM_003919.3(SGCE):c.289C>T (p.Arg97Ter)SNV Pathogenic 5768 rs121908489 7:94257615-94257615 7:94628303-94628303
3 SGCE NM_003919.3(SGCE):c.304C>T (p.Arg102Ter)SNV Pathogenic 5769 rs121908490 7:94257600-94257600 7:94628288-94628288
4 SGCE SGCE, 1-BP DEL, 565Adeletion Pathogenic 5770
5 SGCE SGCE, 97-BP DELdeletion Pathogenic 5771
6 SGCE NM_003919.3(SGCE):c.835_839del (p.Thr279fs)deletion Pathogenic 5772 rs863223283 7:94230156-94230160 7:94600844-94600848
7 SGCE NM_003919.3(SGCE):c.587T>G (p.Leu196Arg)SNV Pathogenic 5773 rs121908491 7:94248145-94248145 7:94618833-94618833
8 SGCE NM_003919.3(SGCE):c.884dup (p.Leu295fs)duplication Pathogenic 5774 rs863223284 7:94230110-94230111 7:94600798-94600799
9 SGCE NM_003919.3(SGCE):c.974del (p.Ser325fs)deletion Pathogenic 5775 7:94230021-94230021 7:94600709-94600709
10 SGCE NM_003919.3(SGCE):c.1114C>T (p.Arg372Ter)SNV Pathogenic 5776 rs121908492 7:94228226-94228226 7:94598914-94598914
11 SGCE NM_003919.2(SGCE):c.464_662deldeletion Pathogenic 5777 7:94233566-94248585 7:94604254-94619273
12 SGCE SGCE, 6,872-BP DEL, EX6DELdeletion Pathogenic 5778
13 SGCE NM_003919.3(SGCE):c.619_620del (p.Arg207fs)deletion Pathogenic 5779 rs863223285 7:94248112-94248113 7:94618800-94618801
14 SGCE NM_003919.3(SGCE):c.709C>T (p.Arg237Ter)SNV Pathogenic 94384 rs398123812 7:94232718-94232718 7:94603406-94603406
15 SGCE NM_003919.3(SGCE):c.619del (p.Arg207fs)deletion Pathogenic 448358 rs1554352819 7:94248113-94248113 7:94618801-94618801
16 SGCE NM_003919.3(SGCE):c.402C>A (p.Tyr134Ter)SNV Pathogenic 448357 rs1554355416 7:94252698-94252698 7:94623386-94623386
17 SGCE deletion Pathogenic 464148 7:94598775-94603452
18 SGCE NM_003919.3(SGCE):c.783dup (p.Phe262fs)duplication Pathogenic 397531 rs1189469219 7:94232643-94232644 7:94603331-94603332
19 SGCE NM_003919.3(SGCE):c.470del (p.Pro157fs)deletion Pathogenic 464157 rs1554353106 7:94248262-94248262 7:94618950-94618950
20 SGCE NC_000007.13:g.(?_94024324)_(94285430_?)deldeletion Pathogenic 532801 7:94024324-94285430 7:94395012-94656118
21 SGCE NM_003919.3(SGCE):c.300del (p.Trp100fs)deletion Pathogenic 532785 rs1554358727 7:94257604-94257604 7:94628292-94628292
22 SGCE NC_000007.13:g.(?_94257494)_(94257691_?)deldeletion Pathogenic 583692 7:94257494-94257691 7:94628182-94628379
23 SGCE NM_003919.3(SGCE):c.795del (p.Gln265fs)deletion Pathogenic 532791 rs1554345077 7:94232632-94232632 7:94603320-94603320
24 SGCE NM_003919.3(SGCE):c.733C>T (p.Gln245Ter)SNV Pathogenic 532786 rs1554345162 7:94232694-94232694 7:94603382-94603382
25 SGCE NM_003919.3(SGCE):c.727C>T (p.Gln243Ter)SNV Pathogenic 532790 rs1554345170 7:94232700-94232700 7:94603388-94603388
26 SGCE NM_003919.3(SGCE):c.559del (p.Ala186_Val187insTer)deletion Pathogenic 532792 rs1554352906 7:94248173-94248173 7:94618861-94618861
27 SGCE NM_003919.3(SGCE):c.841C>T (p.Gln281Ter)SNV Pathogenic 575722 rs1562806242 7:94230154-94230154 7:94600842-94600842
28 SGCE NM_003919.3(SGCE):c.610del (p.Ala204fs)deletion Pathogenic 654222 7:94248122-94248122 7:94618810-94618810
29 SGCE NM_003919.3(SGCE):c.440_443TAAT[1] (p.Ile148_Asn149insTer)short repeat Pathogenic 646818 7:94252653-94252656 7:94623341-94623344
30 SGCE NM_003919.3(SGCE):c.463+1G>ASNV Pathogenic 654935 7:94252636-94252636 7:94623324-94623324
31 SGCE NM_003919.3(SGCE):c.793C>T (p.Gln265Ter)SNV Pathogenic 802337 7:94232634-94232634 7:94603322-94603322
32 SGCE NM_003919.3(SGCE):c.812G>A (p.Cys271Tyr)SNV Pathogenic/Likely pathogenic 807490 7:94232615-94232615 7:94603303-94603303
33 SGCE NM_003919.3(SGCE):c.810G>A (p.Trp270Ter)SNV Pathogenic/Likely pathogenic 624290 rs1562811414 7:94232617-94232617 7:94603305-94603305
34 SGCE NM_003919.3(SGCE):c.742T>A (p.Cys248Ser)SNV Likely pathogenic 807491 7:94232685-94232685 7:94603373-94603373
35 SGCE NM_003919.3(SGCE):c.314A>G (p.Gln105Arg)SNV Likely pathogenic 807492 7:94257590-94257590 7:94628278-94628278
36 SGCE NM_003919.3(SGCE):c.170T>G (p.Leu57Arg)SNV Likely pathogenic 807493 7:94259093-94259093 7:94629781-94629781
37 SGCE NM_003919.3(SGCE):c.434_442dup (p.Asn145_Ile147dup)duplication Likely pathogenic 623228 rs1562853011 7:94252657-94252658 7:94623345-94623346
38 SGCE NM_003919.3(SGCE):c.549_552del (p.Phe183fs)deletion Likely pathogenic 488594 rs1554352952 7:94248180-94248183 7:94618868-94618871
39 SGCE NM_003919.3(SGCE):c.825+1_825+2deldeletion Likely pathogenic 464161 rs1554345052 7:94232600-94232601 7:94603288-94603289
40 SGCE NM_003919.3(SGCE):c.551T>C (p.Leu184Pro)SNV Conflicting interpretations of pathogenicity 420156 rs1064794321 7:94248181-94248181 7:94618869-94618869
41 SGCE NM_003919.3(SGCE):c.510T>C (p.Asn170=)SNV Conflicting interpretations of pathogenicity 360994 rs55853245 7:94248222-94248222 7:94618910-94618910
42 SGCE NM_003919.3(SGCE):c.606A>G (p.Thr202=)SNV Conflicting interpretations of pathogenicity 94383 rs148979783 7:94248126-94248126 7:94618814-94618814
43 SGCE NM_003919.3(SGCE):c.55G>A (p.Gly19Ser)SNV Uncertain significance 285846 rs767335346 7:94285356-94285356 7:94656044-94656044
44 SGCE NM_003919.3(SGCE):c.1025G>A (p.Arg342Gln)SNV Uncertain significance 360988 rs764696852 7:94229970-94229970 7:94600658-94600658
45 DRD2 NM_000795.4(DRD2):c.460G>A (p.Val154Ile)SNV Uncertain significance 16771 rs104894220 11:113287657-113287657 11:113416935-113416935
46 SGCE NM_003919.3(SGCE):c.450_452del (p.Ile150del)deletion Uncertain significance 360995 rs886062522 7:94252648-94252650 7:94623336-94623338
47 SGCE NM_003919.3(SGCE):c.712G>C (p.Glu238Gln)SNV Uncertain significance 360991 rs200035109 7:94232715-94232715 7:94603403-94603403
48 SGCE NM_003919.3(SGCE):c.556G>A (p.Ala186Thr)SNV Uncertain significance 360992 rs746585235 7:94248176-94248176 7:94618864-94618864
49 SGCE NM_003919.3(SGCE):c.536T>C (p.Val179Ala)SNV Uncertain significance 360993 rs886062521 7:94248196-94248196 7:94618884-94618884
50 SGCE NM_003919.3(SGCE):c.1036G>A (p.Val346Met)SNV Uncertain significance 464149 rs533652380 7:94229959-94229959 7:94600647-94600647

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

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

# Name GO ID Score Top Affiliating Genes
1 neuromuscular process controlling posture GO:0050884 8.96 PNKD GCH1
2 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 cullin family protein binding GO:0097602 8.62 KCTD2 KCTD17
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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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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