MCID: MYT026
MIFTS: 28

Myotonia Atrophica

Categories: Rare diseases

Aliases & Classifications for Myotonia Atrophica

MalaCards integrated aliases for Myotonia Atrophica:

Name: Myotonia Atrophica 54
Myotonic Dystrophy 74

Classifications:



External Ids:

UMLS 74 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, brain and testes.

Wikipedia : 77 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 14)
# Related Disease Score Top Affiliating Genes
1 myotonic dystrophy 11.9
2 myotonia 11.0
3 cataract 10.4
4 atrial standstill 1 10.2
5 pilomatrixoma 10.2
6 retinitis pigmentosa 10.2
7 leber congenital amaurosis 4 10.2
8 orthostatic intolerance 10.2
9 hypogonadotropic hypogonadism 10.2
10 heart disease 10.2
11 retinitis 10.2
12 myopathy 10.2
13 muscular atrophy 10.2
14 syncope 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 60)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 2, Phase 3,Phase 3 62-31-7, 51-61-6 681
2
Methylphenidate Approved, Investigational Phase 2, Phase 3 113-45-1 4158
3
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
4
Fesoterodine Approved Phase 3 286930-03-8, 286930-02-7 6918558
5
Acyclovir Approved Phase 3 59277-89-3 2022
6
Apomorphine Approved, Investigational Phase 3 58-00-4, 41372-20-7 6005
7
Levodopa Approved Phase 3 59-92-7 6047
8
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 2, Phase 3 53-43-0 9860744
9
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
10 Immunologic Factors Phase 2, Phase 3
11 Adjuvants, Immunologic Phase 2, Phase 3
12 DHEA (Dehydroepiandrosterone) Phase 2, Phase 3
13 Central Nervous System Stimulants Phase 2, Phase 3
14 Dopamine Agents Phase 2, Phase 3,Phase 3
15 Neurotransmitter Agents Phase 2, Phase 3,Phase 3
16 Neurotransmitter Uptake Inhibitors Phase 2, Phase 3
17 Dopamine Uptake Inhibitors Phase 2, Phase 3
18 Antipsychotic Agents Phase 3
19 Central Nervous System Depressants Phase 3
20 Calcium, Dietary Phase 3
21 Diuretics, Potassium Sparing Phase 3,Phase 2,Phase 1
22 Sodium Channel Blockers Phase 3,Phase 2,Phase 1
23 Psychotropic Drugs Phase 3
24 Hormones Phase 3
25 Tranquilizing Agents Phase 3
26 calcium channel blockers Phase 3
27 Anticonvulsants Phase 3
28 Cholinergic Antagonists Phase 3
29 Muscarinic Antagonists Phase 3
30 Cholinergic Agents Phase 3
31 Antiviral Agents Phase 3
32 Anti-Infective Agents Phase 3
33 Peripheral Nervous System Agents Phase 3
34 Gastrointestinal Agents Phase 3
35 Autonomic Agents Phase 3
36 Emetics Phase 3
37 Dopamine agonists Phase 3
38
Zinc Approved, Investigational Phase 2 7440-66-6 32051
39
Mecasermin Approved, Investigational Phase 2,Phase 1 68562-41-4
40
Mexiletine Approved, Investigational Phase 2 31828-71-4 4178
41 Hypoglycemic Agents Phase 2
42 Insulin, Globin Zinc Phase 2,Phase 1
43 Complement Factor I Phase 2
44 Mitogens Phase 2,Phase 1
45 insulin Phase 2,Phase 1
46 Anti-Arrhythmia Agents Phase 2
47
Ranolazine Approved, Investigational Phase 1 95635-55-5, 142387-99-3 56959
48 Orange Approved Early Phase 1
49
Inulin Approved, Investigational, Nutraceutical Early Phase 1 9005-80-5 24763
50
Fibrinolysin Investigational Not Applicable 9004-09-5

Interventional clinical trials:

(show top 50) (show all 58)
# Name Status NCT ID Phase Drugs
1 RAMYD Study - Evaluation of Arrhythmic Risk in Myotonic Dystrophy Unknown status NCT00127582 Phase 3
2 Efficacy and Safety of DHEA for Myotonic Dystrophy Completed NCT00167609 Phase 2, Phase 3 dehydroepiandrosterone 100 and 400 mg
3 Methylphenidate in Myotonic Dystrophy Type 1 Completed NCT01421992 Phase 2, Phase 3 Methylphenidate;Placebo
4 Lamotrigine as Treatment of Myotonia Completed NCT01939561 Phase 3 Lamotrigine;Placebo
5 Long-Term Open-Label Extension Trial for Subjects Completing the Phase 3 Trial of Fesoterodine (SP583) for the Treatment of Overactive Bladder Syndrome Completed NCT00220402 Phase 3 SPM 907
6 A Multicenter Trial to Investigate Fesoterodine Sustained Release in Overactive Bladder Syndrome Completed NCT00220363 Phase 3 SPM 907
7 Safety and Efficacy of a Violet Visible Light Blocking Intraocular Lens (IOL) Completed NCT00747227 Phase 3
8 Phase 3 Clinical Study for the Treatment of Cold Sore Completed NCT00769314 Phase 3 Acyclovir Lauriad;Placebo
9 PD P 506 A-PDT Versus Placebo-PDT and Cryosurgery for the Treatment of AK Completed NCT00308867 Phase 3
10 An Open-Label Phase 3 Study to Examine the Long-Term Safety, Tolerability and Efficacy of APL-130277 for the Acute Treatment of "OFF" Episodes in Patients With Parkinson's Disease Recruiting NCT02542696 Phase 3 APL-130277
11 Efficacy and Tolerance of Early Launching of Nocturnal Non Invasive Active, not recruiting NCT01225614 Phase 3
12 Efficacy and Safety of Tideglusib in Congenital Myotonic Dystrophy Not yet recruiting NCT03692312 Phase 2, Phase 3 Tideglusib;Placebo
13 Safety and Efficacy Study of Recombinant Human Insulin-Like Growth Factor-I/Recombinant Human Insulin-Like Growth Factor Binding Protein-3 (rhIGF-I/rhIGFBP-3) In Myotonic Dystrophy Type 1 Unknown status NCT00577577 Phase 2 rhIGF-I/rhIGFBP-3;placebo
14 Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type 1 Completed NCT01406873 Phase 2 Mexiletine;Placebo
15 Study of Tideglusib in Adolescent and Adult Patients With Myotonic Dystrophy Completed NCT02858908 Phase 2 Tideglusib
16 Effects of SomatoKine (Iplex)Recombinant Human Insulin-like Growth Factor-1/Recombinant Human Insulin-like Growth Factor-binding Protein-3 (rhIGF-I/rhIGFBP-3) in Myotonic Dystrophy Type 1 (DM1) Completed NCT00233519 Phase 1, Phase 2 SomatoKine/IPLEX
17 A Safety andTolerability Study of Multiple Doses of ISIS-DMPKRx in Adults With Myotonic Dystrophy Type 1 Completed NCT02312011 Phase 1, Phase 2 IONIS-DMPKRx;Placebo
18 Intramuscular Transplantation of Muscle Derived Stem Cell and Adipose Derived Mesenchymal Stem Cells in Patients With Facioscapulohumeral Dystrophy (FSHD) Unknown status NCT02208713 Phase 1
19 The Efficacy of Using Far Infrared Radiation to Manage Muscular Dystrophies Unknown status NCT00674843 Phase 1
20 Study of Ranolazine in Myotonia Congenita, Paramyotonia Congenita and Myotonic Dystrophy Type 1 Completed NCT02251457 Phase 1 Ranolazine
21 Safety, Tolerability and Pharmacokinetics of ERX-963 in Adults With Myotonic Dystrophy Type 1 Recruiting NCT03959189 Phase 1 ERX-963;Placebo
22 Children's Health Research Institute(CHRI), Stanford Lucile Packard Children Hospital (LPCH) Protocol on Myotonic Dystrophy Unknown status NCT02269865
23 Sleep Breathing Disorders, a Main Trigger for Cardiac ARythmias in Type I Myotonic Dystrophy ? Unknown status NCT02375087
24 An MRI Study on Muscular Diseases -Pompe Disease and Dystrophia Myotonica- Unknown status NCT02708784
25 Cardiovascular Consequences of NIV Withdrawal in Patients With Myotonic Dystrophy Unknown status NCT00745238 Not Applicable
26 Non Invasive Prenatal Testing (NIPT) of Single-gene Disorders Unknown status NCT02339402
27 Screening Questionnaire for Respiratory Muscle Weakness and Sleep-disordered Breathing in Neuromuscular Disorders Unknown status NCT02833168
28 Tracking the Brain in Myotonic Dystrophies: a 5-year Longitudinal Follow-up Study Completed NCT02729597
29 Postural Spirometry Changes in Ambulatory Myotonic Dystrophy Patients Completed NCT01242007 Not Applicable
30 Brain Involvement in Myotonic Dystrophy Type I: From Functional Neuroimaging to the Impact on Quality of Life Completed NCT03589677
31 Observational Prolonged Trial in Myotonic Dystrophy Type 1 Completed NCT02118779 Not Applicable
32 Multicenter Observational Study of Myotonic Dystrophy Type 1 Completed NCT02308657
33 Study of Muscle Wasting and Altered Metabolism in Patients With Myotonic Dystrophy Completed NCT00004769
34 Arrhythmias in Myotonic Muscular Dystrophy Completed NCT00622453
35 DM1 Heart Registry - DM1 Respiratory Registry Completed NCT01136330
36 Efficacy and Tolerance of AVAPS Mode in Myotonic Dystrophy Completed NCT01530841 Not Applicable
37 Venous Thromboembolism in DM1 Completed NCT03141749
38 Quality of Life in Neuromuscular Disease Completed NCT02895763
39 Factors Associated With Hypoventilation in the Myotonic Dystrophy, Progressive Profile Over 5 Years Recruiting NCT03764150
40 Clinical Outcome Measures in Myotonic Dystrophy Type 2 Recruiting NCT03603171
41 Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy Recruiting NCT03059264
42 Ventilatory Response After Non Invasive Ventilation in Type 1 Myotonic Dystrophy Recruiting NCT02880735 Not Applicable
43 Myotonic Dystrophy Family Registry Recruiting NCT02398786
44 Venous Thromboembolism in Myotonic Dystrophy Type 1 Recruiting NCT03424460 Not Applicable
45 Assessing Clinical Endpoints and Biomarkers in Myotonic Dystrophy Type-1 and Type 2 (ASCEND-DM) Recruiting NCT03867435
46 Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry Recruiting NCT00082108
47 NIPD on CFTC for Triplet Repeat Diseases Recruiting NCT03087526 Not Applicable
48 Dietary Fibers and Satiety in Bariatric Patients Recruiting NCT03573258 Early Phase 1
49 Prospective Assessment of Allogeneic Hematopoietic Cell Transplantation in Patients With Myelofibrosis Recruiting NCT02934477
50 PhenoDM1 (Myotonic Dystrophy Type 1 Natural History Study) Active, not recruiting NCT02831504

Search NIH Clinical Center for Myotonia Atrophica

Genetic Tests for Myotonia Atrophica

Anatomical Context for Myotonia Atrophica

MalaCards organs/tissues related to Myotonia Atrophica:

42
Skeletal Muscle, Brain, Testes, Heart, Eye, Thyroid, Smooth Muscle

Publications for Myotonia Atrophica

Articles related to Myotonia Atrophica:

(show top 50) (show all 2994)
# Title Authors Year
1
Myotonic dystrophy presenting as severely dilated cardiomyopathy with out-of-hospital cardiac arrest. ( 30484075 )
2019
2
Oropharyngeal dysphagia in early stages of myotonic dystrophy type 1. ( 30994189 )
2019
3
Sleep-disordered breathing and effects of non-invasive ventilation on objective sleep and nocturnal respiration in patients with myotonic dystrophy type I. ( 30898523 )
2019
4
Antenatal Indomethacin Treatment for Congenital Myotonic Dystrophy. ( 30906607 )
2019
5
Vertical relapse after orthodontic and orthognathic surgical treatment in a patient with myotonic dystrophy. ( 30919646 )
2019
6
Perceived fatigue in myotonic dystrophy type 1: a case-control study. ( 30922263 )
2019
7
Precise small-molecule cleavage of an r(CUG) repeat expansion in a myotonic dystrophy mouse model. ( 30926669 )
2019
8
Dysregulation of Calcium Metabolism in Type 1 Myotonic Dystrophy. ( 30963668 )
2019
9
Intrinsically cell-penetrating multivalent and multitargeting ligands for myotonic dystrophy type 1. ( 30975744 )
2019
10
Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease. ( 31003788 )
2019
11
White Matter Lesions Detected by Magnetic Resonance Imaging in Neonates and Children With Congenital Myotonic Dystrophy. ( 31005477 )
2019
12
Dysregulation of Circular RNAs in Myotonic Dystrophy Type 1. ( 31010208 )
2019
13
Myotonic Dystrophy and Anesthetic Challenges: A Case Report and Review. ( 31016049 )
2019
14
Massive abscess with prolonged respiratory failure due to newly diagnosed myotonic dystrophy: A case report. ( 31027145 )
2019
15
Letter of response to "Myotonic dystrophy type 1, individualised respiratory care rather than standart prognostication". ( 31029882 )
2019
16
Analysis of mutational dynamics at the DMPK (CTG)n locus identifies saliva as a suitable DNA sample source for genetic analysis in myotonic dystrophy type 1. ( 31048891 )
2019
17
Body Composition in Patients with Congenital Myotonic Dystrophy. ( 31074869 )
2019
18
Myotonic Dystrophy type 1, individualised respiratory care rather than standart prognostication. ( 31077949 )
2019
19
Survival patterns and cancer determinants in families with myotonic dystrophy type 1. ( 30051542 )
2019
20
Twenty-four-hour ambulatory ECG monitoring relevancy in myotonic dystrophy type 1 follow-up: Prognostic value and heart rate variability evolution. ( 30101452 )
2019
21
Normalization of frequency-domain parameters of heart rate variability in patients with myotonic dystrophy. ( 30242945 )
2019
22
Neurophysiological Evidence of Motor Network Reorganization in Myotonic Dystrophy Type 1: A Pilot Magnetoencephalographic Study. ( 30247381 )
2019
23
Genotype-phenotype correlations in pediatric patients with myotonic dystrophy type 1. ( 30304901 )
2019
24
Letter to the Editor: Circulating Adult Stem and Progenitor Cells After Roux-en-Y Gastric Bypass Surgery in Myotonic Dystrophy. ( 30417272 )
2019
25
Correction to: Affinity capillary electrophoresis for identification of active drug candidates in myotonic dystrophy type 1. ( 30443771 )
2019
26
Heart involvement in patients with myotonic dystrophy type 2. ( 30536153 )
2019
27
Gender difference in clinical conditions among hospitalized adults with myotonic dystrophy. ( 30575975 )
2019
28
Could weight loss contribute to the improved mobility with metformin in patients with myotonic dystrophy type 1? ( 30615069 )
2019
29
Reply: Could weight loss contribute to the improved mobility with metformin in patients with myotonic dystrophy type 1? ( 30615109 )
2019
30
Chronic exercise mitigates disease mechanisms and improves muscle function in myotonic dystrophy type 1 mice. ( 30628727 )
2019
31
A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management. ( 30659139 )
2019
32
Two Mutations in Thyroid Hormone Receptor Beta Gene (P453A and C36Y) in a Family with Resistance to Thyroid Hormone with Comorbid Myotonic Dystrophy. ( 30672388 )
2019
33
The myotonic dystrophy experience: a North American cross-sectional study. ( 30677147 )
2019
34
Health-related quality of life and its correlates in Japanese patients with myotonic dystrophy type 1. ( 30679907 )
2019
35
The Myotonic Dystrophy Health Index: Japanese Adaption and Validity Testing. ( 30681157 )
2019
36
Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease. ( 30685181 )
2019
37
Comprehensive investigations are required to manage cardiac disease in myotonic dystrophy 2. ( 30693450 )
2019
38
Cognitive and adaptive functioning in congenital and childhood forms of myotonic dystrophy type 1: a longitudinal study. ( 30706460 )
2019
39
Health-Related Quality of Life in Patients with Adult-Onset Myotonic Dystrophy Type 1: A Systematic Review. ( 30714084 )
2019
40
Distinct pathological signatures in human cellular models of myotonic dystrophy subtypes. ( 30730308 )
2019
41
Multiple pilomatrixomas as a presentation of myotonic dystrophy. ( 30734963 )
2019
42
Sleep Complaints, Sleep and Breathing Disorders in Myotonic Dystrophy Type 2. ( 30739220 )
2019
43
Systematic thyroid screening in myotonic dystrophy: link between thyroid volume and insulin resistance. ( 30760283 )
2019
44
A neurodevelopmental approach to myotonic dystrophy type 1. ( 30761521 )
2019
45
Non-invasive evaluation of the relationship between electrical and structural cardiac abnormalities in patients with myotonic dystrophy type 1. ( 30767060 )
2019
46
Disease burden of myotonic dystrophy type 1. ( 30788616 )
2019
47
Body composition analysis in patients with myotonic dystrophy types 1 and 2. ( 30790082 )
2019
48
Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study. ( 30798109 )
2019
49
Progressive decline in daily and social activities: A 9-year longitudinal study of participation in myotonic dystrophy type 1. ( 30831092 )
2019
50
What is known about the effects of exercise or training to reduce skeletal muscle impairments of patients with myotonic dystrophy type 1? A scoping review. ( 30836978 )
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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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