MCID: MYT026
MIFTS: 25

Myotonia Atrophica

Categories: Rare diseases

Aliases & Classifications for Myotonia Atrophica

MalaCards integrated aliases for Myotonia Atrophica:

Name: Myotonia Atrophica 53
Myotonic Dystrophy 72

Classifications:



External Ids:

UMLS 72 C0027126

Summaries for Myotonia Atrophica

MalaCards based summary : Myotonia Atrophica, also known as myotonic dystrophy, is related to myotonic dystrophy and myotonia. The drugs Dopamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and brain.

Wikipedia : 75 Myotonic dystrophy is a long term genetic disorder that affects muscle function. Symptoms include... more...

Related Diseases for Myotonia Atrophica

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

(show all 18)
# Related Disease Score Top Affiliating Genes
1 myotonic dystrophy 12.0
2 myotonia 11.2
3 cataract 10.6
4 pilomatrixoma 10.2
5 neurofibromatosis, type iv, of riccardi 10.2
6 retinitis pigmentosa 10.2
7 orthostatic intolerance 10.2
8 cyanosis, transient neonatal 10.2
9 hypogonadotropic hypogonadism 10.2
10 neuroretinitis 10.2
11 heart disease 10.2
12 retinitis 10.2
13 myopathy 10.2
14 neuromuscular disease 10.2
15 muscular atrophy 10.2
16 dysphagia 10.2
17 syncope 10.2
18 thomsen's myotonia 10.2

Graphical network of the top 20 diseases related to Myotonia Atrophica:



Diseases related to Myotonia Atrophica

Symptoms & Phenotypes for Myotonia Atrophica

Drugs & Therapeutics for Myotonia Atrophica

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

(show top 50) (show all 55)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 2, Phase 3 51-61-6, 62-31-7 681
2
Methylphenidate Approved, Investigational Phase 2, Phase 3 113-45-1 4158
3
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
4
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 2, Phase 3 53-43-0 9860744
5
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
6 Immunologic Factors Phase 2, Phase 3
7 Adjuvants, Immunologic Phase 2, Phase 3
8 DHEA (Dehydroepiandrosterone) Phase 2, Phase 3
9 Sodium Channel Blockers Phase 3
10 Diuretics, Potassium Sparing Phase 3
11 Neurotransmitter Agents Phase 2, Phase 3
12 Dopamine Agents Phase 2, Phase 3
13 Neurotransmitter Uptake Inhibitors Phase 2, Phase 3
14 Dopamine Uptake Inhibitors Phase 2, Phase 3
15 Tranquilizing Agents Phase 3
16 Hormones Phase 3
17 Central Nervous System Depressants Phase 3
18 Antipsychotic Agents Phase 3
19 Psychotropic Drugs Phase 3
20 Calcium, Dietary Phase 3
21 Anticonvulsants Phase 3
22 calcium channel blockers Phase 3
23
Zinc Approved, Investigational Phase 2 7440-66-6 32051
24
Mexiletine Approved, Investigational Phase 2 31828-71-4 4178
25
Mecasermin Approved, Investigational Phase 1, Phase 2 68562-41-4
26
Clarithromycin Approved Phase 2 81103-11-9 84029
27 Complement Factor I Phase 2
28 Hypoglycemic Agents Phase 2
29 Anti-Arrhythmia Agents Phase 2
30 insulin Phase 1, Phase 2
31 Insulin, Globin Zinc Phase 1, Phase 2
32 Mitogens Phase 1, Phase 2
33 Anti-Bacterial Agents Phase 2
34 Cytochrome P-450 CYP3A Inhibitors Phase 2
35 Anti-Infective Agents Phase 2
36 Cytochrome P-450 Enzyme Inhibitors Phase 2
37 Antibiotics, Antitubercular Phase 2
38
Ranolazine Approved, Investigational Phase 1 142387-99-3, 95635-55-5 56959
39
Modafinil Approved, Investigational 68693-11-8 4236
40
Fibrinolysin Investigational 9004-09-5
41 Hemostatics
42 alpha-2-Antiplasmin
43 Coagulants
44 Antifibrinolytic Agents
45 Liver Extracts
46 Lupus Coagulation Inhibitor
47 Plasminogen Activator Inhibitor 1
48 Pigment epithelium-derived factor
49 Anticoagulants
50 Plasminogen

Interventional clinical trials:

(show top 50) (show all 56)
# Name Status NCT ID Phase Drugs
1 Evaluation of Arrhythmic Risk in Myotonic Dystrophy Type I (DM 1) Unknown status NCT00127582 Phase 3
2 Phase 3 Study of Oral Dehydroepiandrosterone (DHEA) in Adults With Myotonic Dystrophy Completed NCT00167609 Phase 2, Phase 3 dehydroepiandrosterone 100 and 400 mg
3 Phase 2/3 Study of Efficacy and Tolerability of Methylphenidate in the Treatment of Excessive Daytime Sleepiness in Myotonic Dystrophy Type 1 Completed NCT01421992 Phase 2, Phase 3 Methylphenidate;Placebo
4 Lamotrigine as Treatment of Myotonia - a Phase 3 Randomized Controlled Trial Study Completed NCT01939561 Phase 3 Lamotrigine;Placebo
5 Study of Efficacy and Tolerance of Early Launching of Nocturnal Non Invasive Ventilation in Adults With Myotonic Dystrophy Type 1(DM1) Active, not recruiting NCT01225614 Phase 3
6 A Randomized, Double-Blind Study to Evaluate the Efficacy and Safety of Tideglusib Versus Placebo for the Treatment of Children and Adolescents With Congenital Myotonic Dystrophy Not yet recruiting NCT03692312 Phase 2, Phase 3 Tideglusib;Placebo
7 A Placebo Controlled, Randomized, Double-Blind Phase II Clinical Trial to Evaluate Tolerability, Safety and Efficacy Endpoints After Administration of Recombinant Human Insulin-Like Growth Factor-I/Recombinant Human Insulin-Like Growth Factor Binding Protein-3 (rhIGF-I/rhIGFBP-3) for 24 Weeks in Adults With Myotonic Dystrophy Type 1 Unknown status NCT00577577 Phase 2 rhIGF-I/rhIGFBP-3;placebo
8 A Randomized, Placebo Controlled, Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type-1 (DM1) Completed NCT01406873 Phase 2 Mexiletine;Placebo
9 A Single-Blind, Phase 2 Study To Evaluate The Safety And Efficacy Of Tideglusib 400mg Or 1000mg For The Treatment Of Adolescent And Adult Congenital And Juvenile-Onset Myotonic Dystrophy Completed NCT02858908 Phase 2 Tideglusib
10 A Phase 1/2a Blinded, Placebo-Controlled Study to Assess the Safety, Tolerability, and Dose-range Finding of Multiple Ascending Doses of ISIS 598769 Administered Subcutaneously to Adult Patients With Myotonic Dystrophy Type 1 Completed NCT02312011 Phase 1, Phase 2 IONIS-DMPKRx;Placebo
11 Effects of SomatoKine (Iplex) (rhIGF-I/rhIGFBP-3) in Myotonic Dystrophy Type 1 (DM1) Completed NCT00233519 Phase 1, Phase 2 SomatoKine/IPLEX
12 Antibiotic-mediated Improvements in Vigilance: Mechanisms of Action of Clarithromycin in Hypersomnia Syndromes Not yet recruiting NCT04026958 Phase 2 Clarithromycin;Placebo
13 Phase 1 Study to Determine the Efficacy of Using Far Infrared Radiation to Manage or Treat Muscular Dystrophies. Unknown status NCT00674843 Phase 1
14 Intramuscular Transplantation of Autologous Muscle Derived Stem Cell(MDSC) and Adipose Derived Mesenchymal Stem Cells (AD-MSC) in Patients With Facioscapulohumeral Dystrophy (FSHD), Phase I Clinical Trial Unknown status NCT02208713 Phase 1
15 Open Label Trial of Ranolazine in Myotonia Congenita, Paramyotonia Congenita, & Myotonic Dystrophy Type 1 Completed NCT02251457 Phase 1 Ranolazine
16 Double-Blind, Placebo-Controlled, Dose-Range-Finding, Crossover Trial of Single Day Administration of ERX-963 in Adults With Myotonic Dystrophy Type 1 Recruiting NCT03959189 Phase 1 ERX-963;Placebo
17 Sleep Breathing Disorders, a Main Trigger for Cardiac ARythmias in Type I Myotonic Dystrophy ? Unknown status NCT02375087
18 Defining and Managing the Neuropsychological Abnormalities of Myotonic Dystrophy Unknown status NCT02269865
19 Four Weeks Withdrawal of Non-invasive Ventilation (NIV) in Patients With Myotonic Dystrophy: Cardiovascular, Metabolic and Daytime Vigilance Induced Changes Unknown status NCT00745238
20 Function, Structure and Quality of Striated Muscles in Patients With Muscular Diseases - an MRI Study on Pompe Disease and Dystrophia Myotonica Unknown status NCT02708784
21 Validation of a German Language Screening Questionnaire for Symptoms of Respiratory Muscle Weakness and Sleep-disordered Breathing in Patients With Neuromuscular Disorders Unknown status NCT02833168
22 NON-INVASIVE PRENATAL TESTING (NIPT) OF FETAL SINGLE-GENE DISORDERS IN MATERNAL BLOOD Unknown status NCT02339402
23 Cardiac and Respiratory Prognostic Factors in Patients With Myotonic Dystrophy Type 1 Completed NCT01136330
24 Tracking the Brain in Myotonic Dystrophies: a 5-year Longitudinal Follow-up Study Completed NCT02729597
25 Effects of a Multiple Component Training Program on Muscles, Maximal Muscle Strength, Endurance and Functional Performance in Adults With Myotonic Dystrophy Type 1: A Pilot Study Completed NCT04001920
26 Effects of a 12-week Strength Training Program in Men With Myotonic Dystrophy Type 1 Completed NCT04018820
27 A Multicenter Observational Study to Assess the Variability of Molecular Biomarkers and Clinical Measures in Patients With Myotonic Dystrophy Type 1 Completed NCT02308657
28 Prospective Randomized Controlled Single Blind Study of Efficacy and Tolerance of AVAPS Mode Compared to Bilevel Pressure Ventilation un Adult Patients With Myotonic Dystrophy Completed NCT01530841
29 Incidence and Predictors of Venous Thromboembolism in Myotonic Dystrophy Completed NCT03141749
30 Brain Involvement in Myotonic Dystrophy Type I: From Functional Neuroimaging to the Impact on Quality of Life Completed NCT03589677
31 Myotonic Dystrophy:Muscle Wasting and Altered Metabolism Completed NCT00004769
32 Lung Function Impairment and Postural Spirometry Changes in Ambulatory Myotonic Dystrophy Patients Completed NCT01242007
33 A Registry of Arrhythmias in Myotonic Muscular Dystrophy Completed NCT00622453
34 Observational Prolonged Trial in Myotonic Dystrophy Type 1 to Improve Quality of Life Standards, a Target Identification Collaboration Completed NCT02118779
35 Pulmonary Hypertension--Mechanisms and Family Registry Completed NCT00005357
36 Factors Associated With Hypoventilation in the Myotonic Dystrophy, Progressive Profile Over 5 Years Recruiting NCT03764150
37 Myotonic Dystrophy Family Registry Recruiting NCT02398786
38 Effect of Noninvasive Mechanical Ventilation on Ventilatory Response in Patients With Myotonic Dystrophy Type 1 Recruiting NCT02880735
39 Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1) Recruiting NCT03981575
40 The UK National Registry for Myotonic Dystrophy Recruiting NCT04003363
41 Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy Recruiting NCT03059264
42 The Electrophysiological Study Guided ICD Strategy in Prevention of Arrhythmic Cardiac Death in Myotonic Dystrophy Type 1 Patients With Conduction System Disease Recruiting NCT03784586
43 National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members Recruiting NCT00082108
44 Assessing Clinical Endpoint and Biomarkers in Myotonic Dystrophy Type-1 and Type-2 Recruiting NCT03867435
45 Observational Trial in Myotonic Dystrophy Type 2 to Define Specific Clinical Outcome Measures Recruiting NCT03603171
46 Venous Thromboembolism in Myotonic Dystrophy Type 1 Recruiting NCT03424460
47 Non Invasive Prenatal Diagnosis on Isolated Circulating Fetal Trophoblastic Cells (CFTC) for Triplet Repeat Diseases Recruiting NCT03087526
48 Myotonic Dystrophy Type 1 (DM1) Deep Phenotyping to Improve Delivery of Personalized Medicine and Assist in the Planning, Design and Recruitment of Clinical Trials Active, not recruiting NCT02831504
49 Muscle Relaxation Properties in Myopathies With Positive Muscle Phenomena: a Study Using Transcranial Magnetic Stimulation Enrolling by invitation NCT03211923
50 Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias (Long QT Syndrome, Brugada Syndrome, CPVT and Early Repolarization Syndrome) Enrolling by invitation NCT02413450

Search NIH Clinical Center for Myotonia Atrophica

Genetic Tests for Myotonia Atrophica

Anatomical Context for Myotonia Atrophica

MalaCards organs/tissues related to Myotonia Atrophica:

41
Skeletal Muscle, Heart, Brain, Testes, Eye, Liver, Lung

Publications for Myotonia Atrophica

Articles related to Myotonia Atrophica:

(show top 50) (show all 5021)
# Title Authors PMID Year
1
Acute Pancreatitis Associated With Myotonic Dystrophy Type I. 38
31425487 2019
2
Anesthetic management of a child with congenital Steiner syndrome scheduled for laparoscopic bilateral orchidopexy. 38
31027758 2019
3
Genome Editing of Expanded CTG Repeats within the Human DMPK Gene Reduces Nuclear RNA Foci in the Muscle of DM1 Mice. 38
31253581 2019
4
New pharmacotherapies for genetic neuromuscular disorders: opportunities and challenges. 38
31220956 2019
5
C9orf72 and triplet repeat disorder RNAs: G-quadruplex formation, binding to PRC2 and implications for disease mechanisms. 38
31048495 2019
6
Non-invasive evaluation of the relationship between electrical and structural cardiac abnormalities in patients with myotonic dystrophy type 1. 38
30767060 2019
7
[Analysis of HINT1 gene variant in a case with neuromyotonia and axonal neuropathy]. 38
31400136 2019
8
Benign tumors in myotonic dystrophy type I target disease-related cancer sites. 38
31402615 2019
9
Correction of GSK3β in DM1 reduces the mutant RNA and improves postnatal survival of DMSXL mice. 38
31383751 2019
10
Body composition in patients with congenital myotonic dystrophy. 38
31074869 2019
11
Mitigating RNA Toxicity in Myotonic Dystrophy using Small Molecules. 38
31426500 2019
12
Analysis of the functional capacity outcome measures for myotonic dystrophy. 38
31402614 2019
13
Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort. 38
31395669 2019
14
Family communication following a diagnosis of myotonic dystrophy: To tell or not to tell? 38
31385417 2019
15
Reply to the letter entitled "Predictors of respiratory impairment in patients with myotonic dystrophy type 1". 38
31153591 2019
16
Predictors of respiratory impairment in patients with myotonic dystrophy type 1. 38
31153592 2019
17
Training program-induced skeletal muscle adaptations in two men with myotonic dystrophy type 1. 38
31429798 2019
18
Age-related cognitive decline in myotonic dystrophy type 1: An 11-year longitudinal follow-up study. 38
31407859 2019
19
Prevalence of left ventricular systolic dysfunction in myotonic dystrophy type 1: a systematic review. 38
31415861 2019
20
Health-Related Quality of Life in Patients with Adult-Onset Myotonic Dystrophy Type 1: A Systematic Review. 38
30714084 2019
21
Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease. 38
31416449 2019
22
Repeat-associated RNA structure and aberrant splicing. 38
31323433 2019
23
Methylphenidate Attenuates the Cognitive and Mood Alterations Observed in Mbnl2 Knockout Mice and Reduces Microglia Overexpression. 38
30060068 2019
24
MBNL1 overexpression is not sufficient to rescue the phenotypes in a mouse model of RNA toxicity. 38
30997488 2019
25
RNA sequencing reveals abnormal LDB3 splicing in sudden cardiac death. 38
31419596 2019
26
Myotonic Dystrophy: The "right weapons" to fight the long battle against sudden cardiac death. 38
31320264 2019
27
microRNA dysregulation in neurodegenerative diseases: A systematic review. 38
31356849 2019
28
Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease. 38
30685181 2019
29
Short Tandem Repeat Expansions and RNA-Mediated Pathogenesis in Myotonic Dystrophy. 38
31323950 2019
30
The prevalence of faecal incontinence in myotonic dystrophy type 1. 38
31266721 2019
31
CRISPR/Cas Applications in Myotonic Dystrophy: Expanding Opportunities. 38
31357652 2019
32
Oropharyngeal dysphagia in early stages of myotonic dystrophy type 1. 38
30994189 2019
33
A Case Report of Myotonic Disease and Gastric Bypass and a Literature Review. 38
31054108 2019
34
Molecular genetics of congenital myotonic dystrophy. 38
31326502 2019
35
White Matter Lesions Detected by Magnetic Resonance Imaging in Neonates and Children With Congenital Myotonic Dystrophy. 38
31005477 2019
36
Allele length of the DMPK CTG repeat is a predictor of progressive myotonic dystrophy type 1 phenotypes. 38
31220271 2019
37
Clinical use of bioelectrical impedance analysis in patients affected by myotonic dystrophy type 1: A cross-sectional study. 38
31376676 2019
38
Brain Structural Features of Myotonic Dystrophy Type 1 and their Relationship with Ctg Repeats. 38
31306140 2019
39
Patient-reported study of the impact of pediatric-onset myotonic dystrophy. 38
31298737 2019
40
The nuclear concentration required for antisense oligonucleotide activity in myotonic dystrophy cells. 38
31311315 2019
41
Differences in the pattern of cognitive impairments between juvenile and adult onset myotonic dystrophy type 1. 38
31371188 2019
42
DMPK gene DNA methylation levels are associated with muscular and respiratory profiles in DM1. 38
31334355 2019
43
Pathological findings in a patient with non-dystrophic myotonia with a mutation of the SCN4A gene; a case report. 38
31189464 2019
44
Robust and accurate detection and sizing of repeats within the DMPK gene using a novel TP-PCR test. 38
31164682 2019
45
The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care. 38
31159885 2019
46
The role of the protein-RNA recognition code in neurodegeneration. 38
30980111 2019
47
Inhospital Complications of Patients With Neuromuscular Disorders Undergoing Total Joint Arthroplasty. 38
30285988 2019
48
MSH3 modifies somatic instability and disease severity in Huntington's and myotonic dystrophy type 1. 38
31216018 2019
49
Recent advances in molecular therapies for neurological disease: triplet repeat disorders. 38
31227833 2019
50
AAV-based gene therapies for the muscular dystrophies. 38
31238336 2019

Variations for Myotonia Atrophica

Expression for Myotonia Atrophica

Search GEO for disease gene expression data for Myotonia Atrophica.

Pathways for Myotonia Atrophica

GO Terms for Myotonia Atrophica

Sources for Myotonia Atrophica

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
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