MCID: MYT021
MIFTS: 68

Myotonic Dystrophy 1

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Reproductive diseases, Endocrine diseases, Muscle diseases

Aliases & Classifications for Myotonic Dystrophy 1

MalaCards integrated aliases for Myotonic Dystrophy 1:

Name: Myotonic Dystrophy 1 53 71 13 37 69
Myotonic Dystrophy Type 1 12 23 49 55 14
Steinert Disease 53 12 49 55 71
Dystrophia Myotonica 53 12 72 71
Dm1 53 49 55 71
Congenital Myotonic Dystrophy 12 49 69
Steinert Myotonic Dystrophy 49 55 71
Dystrophia Myotonica 1 53 71
Myotonic Dystrophy 41 69
Steinert's Disease 23 49
Dm 53 71
Steinert Myotonic Dystrophy Syndrome 28
Myotonic Dystrophy of Steinert 12
Myotonic Dystrophy Congenital 51
Dystrophia Myotonica Type 1 49
Dystrophia Myotonica; Dm 53
Md1 55

Characteristics:

Orphanet epidemiological data:

55
steinert myotonic dystrophy
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe),1-5/10000 (United Kingdom),1-5/10000 (Iceland),1-9/100000 (Serbia),1-9/100000 (Japan),1-9/1000000 (Taiwan, Province of China),1-5/10000 (South Africa),6-9/10000,>1/1000,1-9/1000000 (Serbia),1-9/100000 (Italy),1-5/10000 (Ireland),1-5/10000,1-9/100000,1-5/10000 (Croatia); Age of onset: Adult,Neonatal; Age of death: any age;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
genetic anticipation occurs
prevalence of in 1 in 8,000
normal - 5 to 37 copies of (ctg)n repeat in dmpk
affected, mild - 50-150 repeats
adult onset - 100-1,000 repeats
congenital - over 2,000 repeats
negative repeat expansion (reverse anticipation) can occur (approximately 5% of the time)


HPO:

31
myotonic dystrophy 1:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Penetrance is high (nearly 100% by age 50 years) when all manifestations of the disease, even those that are subtle, are sought. however, mild cases (e.g., persons with only cataracts) may be missed [moxley & meola 2008]...

Classifications:



Summaries for Myotonic Dystrophy 1

OMIM : 53 Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats. The disorder shows genetic anticipation, with expansion of the repeat number dependent on the sex of the transmitting parent. Alleles of 40 to 80 repeats are usually expanded when transmitted by males, whereas only alleles longer than 80 repeats tend to expand in maternal transmissions. Repeat contraction events occur 4.2 to 6.4% of the time (Musova et al., 2009). (160900)

MalaCards based summary : Myotonic Dystrophy 1, also known as myotonic dystrophy type 1, is related to myotonic dystrophy 2 and myotonic dystrophy, and has symptoms including respiratory distress, hydrocephalus and muscular hypotonia. An important gene associated with Myotonic Dystrophy 1 is DMPK (DM1 Protein Kinase), and among its related pathways/superpathways are Calcium signaling pathway and Aldosterone-regulated sodium reabsorption. The drugs Zinc and Insulin Aspart have been mentioned in the context of this disorder. Affiliated tissues include breast, skeletal muscle and heart, and related phenotype is muscle.

UniProtKB/Swiss-Prot : 71 Dystrophia myotonica 1: A muscular disorder characterized by myotonia, muscle wasting in the distal extremities, cataract, hypogonadism, defective endocrine functions, male baldness and cardiac arrhythmias.

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Myotonic dystrophy.

Disease Ontology : 12 A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has physical basis in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region.

Wikipedia : 72 Myotonic dystrophy is a long term genetic disorder that affects muscle function. Symptoms include... more...

GeneReviews: NBK1165

Related Diseases for Myotonic Dystrophy 1

Graphical network of the top 20 diseases related to Myotonic Dystrophy 1:



Diseases related to Myotonic Dystrophy 1

Symptoms & Phenotypes for Myotonic Dystrophy 1

Symptoms via clinical synopsis from OMIM:

53
Muscle Soft Tissue:
weakness
myotonia (delayed muscle relaxation after contraction)
electromyography shows myotonic discharges
wasting, especially temporal, neck, and facial muscles
respiratory distress (congenital form)
more
Head And Neck Eyes:
cataract

Cardiovascular Heart:
heart block
atrial arrhythmias
ekg abnormalities

Neurologic Central Nervous System:
cerebral atrophy
excessive daytime sleepiness
mild cognitive deterioration in adults
speech disability
reduced sleep latency
more
Skin Nails Hair Hair:
frontal balding (male pattern baldness)

Prenatal Manifestations Movement:
reduced fetal movements (congenital form)

Abdomen Gastroin testinal:
dysphagia
recurrent intestinal pseudoobstruction
poor feeding (congenital form)

Abdomen Biliary Tract:
cholelithiasis

Genitourinary Internal Genitalia Male:
hypogonadism
testicular atrophy

Genitourinary Internal Genitalia Female:
uncoordinated uterine contraction

Neurologic Behavioral Psychiatric Manifestations:
avoidant personality traits
obsessive-compulsive traits
passive-aggressive traits

Prenatal Manifestations Amniotic Fluid:
polyhydramnios (congenital form)


Clinical features from OMIM:

160900

Human phenotypes related to Myotonic Dystrophy 1:

55 31 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 respiratory distress 55 31 frequent (33%) Frequent (79-30%) HP:0002098
2 hydrocephalus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000238
3 muscular hypotonia 55 31 frequent (33%) Frequent (79-30%) HP:0001252
4 facial palsy 55 31 frequent (33%) Frequent (79-30%) HP:0010628
5 cataract 55 31 frequent (33%) Frequent (79-30%) HP:0000518
6 hypertonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001276
7 intellectual disability, severe 55 31 hallmark (90%) Very frequent (99-80%) HP:0010864
8 emg abnormality 55 31 hallmark (90%) Very frequent (99-80%) HP:0003457
9 myotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002486
10 skeletal muscle atrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0003202
11 strabismus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000486
12 cryptorchidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000028
13 mask-like facies 55 31 hallmark (90%) Very frequent (99-80%) HP:0000298
14 testicular atrophy 55 31 frequent (33%) Frequent (79-30%) HP:0000029
15 abnormality of the endocrine system 55 31 frequent (33%) Frequent (79-30%) HP:0000818
16 hip dislocation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002827
17 hernia of the abdominal wall 55 31 occasional (7.5%) Occasional (29-5%) HP:0004299
18 intellectual disability, progressive 55 31 frequent (33%) Frequent (79-30%) HP:0006887
19 abnormality of the upper urinary tract 55 31 occasional (7.5%) Occasional (29-5%) HP:0010935
20 abnormal hair quantity 55 31 frequent (33%) Frequent (79-30%) HP:0011362
21 first degree atrioventricular block 55 31 hallmark (90%) Very frequent (99-80%) HP:0011705
22 non-midline cleft lip 55 31 occasional (7.5%) Occasional (29-5%) HP:0100335
23 muscle weakness 31 HP:0001324
24 dysphagia 31 HP:0002015
25 feeding difficulties in infancy 31 HP:0008872
26 malformation of the heart and great vessels 55 Frequent (79-30%)
27 cholelithiasis 31 HP:0001081
28 hypogonadism 31 HP:0000135
29 polyhydramnios 31 HP:0001561
30 decreased fetal movement 31 HP:0001558
31 abnormality of cardiovascular system morphology 31 frequent (33%) HP:0030680
32 cerebral atrophy 31 HP:0002059
33 atrial fibrillation 31 very rare (1%) HP:0005110
34 generalized hypotonia 31 HP:0001290
35 obsessive-compulsive trait 31 HP:0008770
36 frontal balding 31 HP:0002292
37 excessive daytime sleepiness 31 HP:0002189
38 facial diplegia 31 HP:0001349
39 atrial flutter 31 very rare (1%) HP:0004749

UMLS symptoms related to Myotonic Dystrophy 1:


excessive daytime somnolence, weakness

MGI Mouse Phenotypes related to Myotonic Dystrophy 1:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.23 ATP2A1 CLCN1 DHCR7 DMPK MBNL1 MBNL3

Drugs & Therapeutics for Myotonic Dystrophy 1

Drugs for Myotonic Dystrophy 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 166)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved, Investigational Phase 4,Phase 2 7440-66-6 32051 23994
2
Insulin Aspart Approved Phase 4 116094-23-6 16132418
3
Insulin Glargine Approved Phase 4 160337-95-1
4
Insulin Lispro Approved Phase 4 133107-64-9
5
Insulin-glulisine Approved Phase 4 207748-29-6
6 Hypoglycemic Agents Phase 4,Phase 2
7 insulin Phase 4,Phase 2,Phase 1
8 Insulin, Globin Zinc Phase 4,Phase 2,Phase 1
9 Insulin degludec, insulin aspart drug combination Phase 4
10 Insulin, Long-Acting Phase 4
11
Dopamine Approved Phase 2, Phase 3 51-61-6, 62-31-7 681
12
Methylphenidate Approved, Investigational Phase 2, Phase 3 20748-11-2, 113-45-1 4158
13
Adenosine Approved, Investigational Phase 3,Phase 2,Phase 1 58-61-7 60961
14
Paclitaxel Approved, Vet_approved Phase 3,Phase 2,Phase 1 33069-62-4 36314
15
Pertuzumab Approved Phase 3,Phase 1,Phase 2 380610-27-5, 145040-37-5 2540
16
Trastuzumab Approved, Investigational Phase 3,Phase 2,Phase 1 180288-69-1 9903
17
Capecitabine Approved, Investigational Phase 3,Phase 2 154361-50-9 60953
18
Tamoxifen Approved Phase 3,Phase 2 10540-29-1 2733526
19
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
20
Fesoterodine Approved Phase 3 286930-02-7, 286930-03-8 6918558
21
Gemcitabine Approved Phase 3,Phase 1,Phase 2 95058-81-4 60750
22
Vinorelbine Approved, Investigational Phase 3,Phase 1,Phase 2 71486-22-1 44424639 60780
23
Apomorphine Approved, Investigational Phase 3 58-00-4, 41372-20-7 6005
24
Levodopa Approved Phase 3 59-92-7 6047
25
Carboplatin Approved Phase 3 41575-94-4 10339178 38904 498142
26
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 2, Phase 3 53-43-0 9860744
27
Docetaxel Approved May 1996, Investigational Phase 3,Phase 2,Phase 1 114977-28-5 148124 9877265
28
Lapatinib Approved March 2007, Investigational Phase 3,Phase 1,Phase 2 231277-92-2, 388082-78-8 208908 9941095
29 Hormones Phase 3,Phase 1,Phase 2
30 Mitogens Phase 3,Phase 2,Phase 1
31 Adjuvants, Immunologic Phase 2, Phase 3
32 Central Nervous System Stimulants Phase 2, Phase 3
33 Dopamine Agents Phase 2, Phase 3
34 Dopamine Uptake Inhibitors Phase 2, Phase 3
35 Neurotransmitter Agents Phase 2, Phase 3
36 Neurotransmitter Uptake Inhibitors Phase 2, Phase 3
37 Ado-trastuzumab emtansine Phase 3,Phase 2,Phase 1
38 Albumin-Bound Paclitaxel Phase 3,Phase 2,Phase 1
39 Antimitotic Agents Phase 3,Phase 2,Phase 1
40 Antineoplastic Agents, Phytogenic Phase 3,Phase 2,Phase 1
41 Maytansine Phase 3,Phase 2,Phase 1
42 taxane Phase 3,Phase 2,Phase 1
43 Antimetabolites Phase 3,Phase 2,Phase 1
44 Antimetabolites, Antineoplastic Phase 3,Phase 2,Phase 1
45 Protein Kinase Inhibitors Phase 3,Phase 1,Phase 2
46 Aromatase Inhibitors Phase 3,Phase 2
47 Prolactin Release-Inhibiting Factors Phase 3,Phase 2
48 Anticonvulsants Phase 3
49 calcium channel blockers Phase 3
50 Calcium, Dietary Phase 3

Interventional clinical trials:

(show top 50) (show all 139)

# Name Status NCT ID Phase Drugs
1 Impact on the Oxidative Stress of the Different Analogues of Insulin in People With Type 1 Diabetes. (Ineox Study) Recruiting NCT03328845 Phase 4 Toujeo SoloStar;Tresiba;Humalog Kwikpen;NovoRapid;Apidra
2 RAMYD Study - Evaluation of Arrhythmic Risk in Myotonic Dystrophy Unknown status NCT00127582 Phase 3
3 Efficacy and Safety of DHEA for Myotonic Dystrophy Completed NCT00167609 Phase 2, Phase 3 dehydroepiandrosterone 100 and 400 mg
4 Methylphenidate in Myotonic Dystrophy Type 1 Completed NCT01421992 Phase 2, Phase 3 Methylphenidate;Placebo
5 A Study of Trastuzumab Emtansine (T-DM1) Plus Pertuzumab/Pertuzumab Placebo Versus Trastuzumab [Herceptin] Plus a Taxane in Participants With Metastatic Breast Cancer (MARIANNE) Completed NCT01120184 Phase 3 docetaxel;paclitaxel;pertuzumab;pertuzumab-placebo;trastuzumab [Herceptin];trastuzumab emtansine
6 A Study of Trastuzumab Emtansine Versus Capecitabine + Lapatinib in Participants With HER2-positive Locally Advanced or Metastatic Breast Cancer Completed NCT00829166 Phase 3 Trastuzumab emtansine;Lapatinib;Capecitabine
7 A Study of Trastuzumab Emtansine in Comparison With Treatment of Physician's Choice in Participants With HER2-positive Breast Cancer Who Have Received at Least Two Prior Regimens of HER2-directed Therapy Completed NCT01419197 Phase 3 Trastuzumab emtansine;Treatment of physician's choice
8 Lamotrigine as Treatment of Myotonia Completed NCT01939561 Phase 3 Lamotrigine;Placebo
9 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
10 A Multicenter Trial to Investigate Fesoterodine Sustained Release in Overactive Bladder Syndrome Completed NCT00220363 Phase 3 SPM 907
11 Safety and Efficacy of a Violet Visible Light Blocking Intraocular Lens (IOL) Completed NCT00747227 Phase 3
12 Phase 3 Clinical Study for the Treatment of Cold Sore Completed NCT00769314 Phase 3 Acyclovir Lauriad;Placebo
13 PD P 506 A-PDT Versus Placebo-PDT and Cryosurgery for the Treatment of AK Completed NCT00308867 Phase 3
14 A Phase III Trial of Pertuzumab Retreatment in Previously Pertuzumab Treated Her2-Positive Advanced Breast Cancer Recruiting NCT02514681 Phase 3 Trastuzumab;Pertuzumab;Docetaxel;Paclitaxel;Nab-paclitaxel;Vinorelbine;Eribulin;Capecitabine;Gemcitabine
15 Efficacy and Safety of Trastuzumab Emtansine in Chinese Participants With Human Epidermal Growth Factor Receptor 2 (HER2)-Positive Locally Advanced or Metastatic Breast Cancer Recruiting NCT03084939 Phase 3 Lapatinib;Capecitabine
16 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
17 Efficacy and Tolerance of Early Launching of Nocturnal Non Invasive Active, not recruiting NCT01225614 Phase 3
18 A Study Evaluating Trastuzumab Emtansine Plus Pertuzumab Compared With Chemotherapy Plus Trastuzumab and Pertuzumab for Participants With Human Epidermal Growth Factor Receptor 2 (HER2)-Positive Breast Cancer Active, not recruiting NCT02131064 Phase 3 Carboplatin;Docetaxel;Pertuzumab;Trastuzumab;Trastuzumab Emtansine
19 A Study of Trastuzumab Emtansine in Participants With Human Epidermal Growth Factor Receptor 2 (HER2) Positive Breast Cancer Who Have Received Prior Anti-HER2 And Chemotherapy-based Treatment Active, not recruiting NCT01702571 Phase 3 Trastuzumab Emtansine
20 A Study of Trastuzumab Emtansine Versus Taxane in Participants With Human Epidermal Growth Factor Receptor 2 (HER2)-Positive Advanced Gastric Cancer Terminated NCT01641939 Phase 2, Phase 3 Taxane;trastuzumab emtansine;trastuzumab emtansine
21 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
22 Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type 1 Completed NCT01406873 Phase 2 Mexiletine;Placebo
23 Study of Tideglusib in Adolescent and Adult Patients With Myotonic Dystrophy Completed NCT02858908 Phase 2 Tideglusib
24 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
25 A Study of Trastuzumab Emtansine (T-DM1) in Combination With Docetaxel, and Potentially Pertuzumab, in Participants With Advanced Breast Cancer Completed NCT00934856 Phase 1, Phase 2 Docetaxel;Pertuzumab;Trastuzumab emtansine
26 Corrected QT Interval Effects of Trastuzumab Emtansine (T-DM1) in Patients With Human Epidermal Growth Factor Receptor 2 (HER2)-Positive Locally Advanced or Metastatic Breast Cancer and the Safety and Tolerability of Combined T-DM1 and Pertuzumab in Patie Completed NCT00943670 Phase 2
27 A Study of Trastuzumab-Mcc-DM1 Administered Intravenously to Patients With HER2-Positive Metastatic Breast Cancer Completed NCT00679211 Phase 2 Trastuzumab emtansine [Kadcyla]
28 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
29 Study of Ranolazine in Myotonia Congenita, Paramyotonia Congenita and Myotonic Dystrophy Type 1 Completed NCT02251457 Phase 2 Ranolazine
30 A Study of Trastuzumab Emtansine (Trastuzumab-MCC-DM1) Administered Intravenously to Patients With Human Epidermal Growth Factor Receptor 2 (HER2)-Positive Metastatic Breast Cancer Completed NCT00509769 Phase 2 Trastuzumab emtansine [Kadcyla]
31 A Study of Trastuzumab Emtansine (Trastuzumab-MCC-DM1, T-DM1) in Combination With Pertuzumab Administered to Patients With Human Epidermal Growth Factor Receptor-2 (HER2)-Positive Locally Advanced or Metastatic Breast Cancer Who Have Previously Received T Completed NCT00875979 Phase 1, Phase 2 Trastuzumab emtansine [Kadcyla] 3.0 mg/kg;Trastuzumab emtansine [Kadcyla] 3.6 mg/kg;Pertuzumab 420 mg
32 A Study of the Efficacy and Safety of Trastuzumab Emtansine (Trastuzumab-MCC-DM1) vs. Trastuzumab (Herceptin®) and Docetaxel (Taxotere®) in Patients With Metastatic HER2-positive Breast Cancer Who Have Not Received Prior Chemotherapy for Metastatic Diseas Completed NCT00679341 Phase 2 Trastuzumab emtansine [Kadcyla];Trastuzumab;Docetaxel
33 A Study of Trastuzumab Emtansine (T-DM1) Sequentially With Anthracycline-based Chemotherapy, as Adjuvant or Neoadjuvant Therapy for Patients With Early Stage Herceptin (HER)2-positive Breast Cancer Completed NCT01196052 Phase 2 Trastuzumab emtansine
34 MLN2704 in Subjects With Metastatic Androgen-Independent Prostate Cancer Completed NCT00070837 Phase 1, Phase 2 MLN2704 (DM1 conjugated monoclonal antibody MLN591)
35 A Study of Trastuzumab Emtansine, Paclitaxel, and Pertuzumab in Patients With HER2-Positive, Locally Advanced or Metastatic Breast Cancer Completed NCT00951665 Phase 1, Phase 2 paclitaxel;pertuzumab [Perjeta];trastuzumab emtansine [Kadcyla];paclitaxel;trastuzumab emtansine [Kadcyla]
36 A Combination Study of Kadcyla (Trastuzumab Emtansine) and Capecitabine in Participants With Human Epidermal Growth Factor Receptor 2 (HER2)-Positive Metastatic Breast Cancer (mBC) or HER2-Positive Locally Advanced/Metastatic Gastric Cancer (LA/mGC) Completed NCT01702558 Phase 2 Capecitabine;Trastuzumab emtansine
37 A Dose-Escalation Study Evaluating the Combination of Trastuzumab Emtansine (T-DM1) With Neratinib in Women With Metastatic HER2-Positive Breast Cancer Recruiting NCT02236000 Phase 1, Phase 2 Neratinib;T-DM1
38 T-DM1+Pertuzumab in Pre-OP Early-Stage HER2+ BRCA Recruiting NCT02326974 Phase 2 T-DM1;Pertuzumab
39 T-DM1 Alone Versus T-DM1 and Metronomic Temozolomide in Secondary Prevention of HER2-Positive Breast Cancer Brain Metastases Following Stereotactic Radiosurgery Recruiting NCT03190967 Phase 1, Phase 2 T-DM1;TMZ
40 An Open-Label, Phase Ib/II Clinical Trial Of Cdk 4/6 Inhibitor, Ribociclib (Lee011), In Combination With Trastuzumab Or T-Dm1 For Advanced/Metastatic Her2-Positive Breast Cancer. Recruiting NCT02657343 Phase 1, Phase 2 Ribociclib;T-DM1;Trastuzumab;Fulvestrant
41 Vinorelbine With Trastuzumab Emtansine in Pre-Treated HER2-Positive Metastatic Breast Cancer Recruiting NCT02658084 Phase 1, Phase 2 Vinorelbine;Trastuzumab Emtansine
42 DS-8201a in Human Epidermal Growth Factor Receptor 2 (HER2)-Positive Breast Cancer Recruiting NCT03248492 Phase 2 DS-8201a
43 Deciphering Antitumour Response and Resistance With INtratumour Heterogeneity Recruiting NCT02314481 Phase 2 MPDL3280A;Vemurafenib;Alectinib;Trastuzumab emtansine
44 TDM1 With Abraxane and Lapatinib for Metastatic HER2 Positive Breast Cancer Recruiting NCT02073916 Phase 1, Phase 2 TDM1;Lapatinib;Abraxane
45 Trial of Ibrutinib Plus Trastuzumab in HER2-amplified Metastatic Breast Cancer Recruiting NCT03379428 Phase 1, Phase 2 Trastuzumab;Ibrutinib 560 mg;Ibrutinib 840 mg;Ibrutinib 420 mg
46 A Safety Extension Study of Trastuzumab Emtansine in Participants Previously Treated With Trastuzumab Emtansine Alone or in Combination With Other Anti-Cancer Therapy in One of the Parent Studies Recruiting NCT00781612 Phase 2 Docetaxel;Paclitaxel;Pertuzumab;Trastuzumab;Trastuzumab Emtansine
47 Transplantation of Autologous Stem Cells for the Treatment of Type 1 Diabetes Mellitus Recruiting NCT02644759 Phase 1, Phase 2
48 I-SPY 2 TRIAL: Neoadjuvant and Personalized Adaptive Novel Agents to Treat Breast Cancer Recruiting NCT01042379 Phase 2 Standard Therapy;AMG 386 with or without Trastuzumab;AMG 479 (Ganitumab) plus Metformin;MK-2206 with or without Trastuzumab;AMG 386 and Trastuzumab;T-DM1 and Pertuzumab;Pertuzumab and Trastuzumab;Ganetespib;ABT-888;Neratinib;PLX3397;Pembrolizumab - 4 cycle;Talazoparib plus Irinotecan;Patritumab and Trastuzumab;Pembrolizumab - 8 cycle;SGN-LIV1A
49 NEOADjuvant Aromatase Inhibitor and Pertuzumab/Trastuzumab for Women With Breast Cancer Recruiting NCT02689921 Phase 2 Exemestane;Letrozole;Anastrozole;Leuprolide Acetate;Pertuzumab;Trastuzumab
50 NCI-MATCH: Targeted Therapy Directed by Genetic Testing in Treating Patients With Advanced Refractory Solid Tumors, Lymphomas, or Multiple Myeloma Recruiting NCT02465060 Phase 2 Adavosertib;Afatinib;Binimetinib;Capivasertib;Crizotinib;Dabrafenib;Dasatinib;Defactinib;FGFR Inhibitor AZD4547;Larotrectinib;Osimertinib;Palbociclib;PI3K-beta Inhibitor GSK2636771;Sapanisertib;Sunitinib Malate;Taselisib;Trametinib;Vismodegib

Search NIH Clinical Center for Myotonic Dystrophy 1

Cochrane evidence based reviews: myotonic dystrophy

Genetic Tests for Myotonic Dystrophy 1

Genetic tests related to Myotonic Dystrophy 1:

# Genetic test Affiliating Genes
1 Steinert Myotonic Dystrophy Syndrome 28 DMPK

Anatomical Context for Myotonic Dystrophy 1

MalaCards organs/tissues related to Myotonic Dystrophy 1:

38
Breast, Skeletal Muscle, Heart, Brain, Smooth Muscle, Testes, Prostate

Publications for Myotonic Dystrophy 1

Articles related to Myotonic Dystrophy 1:

(show top 50) (show all 446)
# Title Authors Year
1
Altered power spectral density in the resting-state sensorimotor network in patients with myotonic dystrophy type 1. ( 29343751 )
2018
2
Macroscopic and microscopic diversity of missplicing in the central nervous system of patients with myotonic dystrophy type 1. ( 29381654 )
2018
3
Myotonic dystrophy type 1 with diabetes mellitus, mixed hypogonadism and adrenal insufficiency. ( 29367875 )
2018
4
Increased EEG Theta Spectral Power in Sleep in Myotonic Dystrophy Type 1. ( 29394960 )
2018
5
Development and Validation of a New Scoring System to Predict Survival in Patients With Myotonic Dystrophy Type 1. ( 29404559 )
2018
6
Orexin/hypocretin levels in the cerebrospinal fluid and characteristics of patients with myotonic dystrophy type 1 with excessive daytime sleepiness. ( 29445282 )
2018
7
Swallowing impairments in Amyotrophic Lateral Sclerosis and Myotonic Dystrophy type 1: Looking for the portrait of dysphagic patient in neuromuscular diseases. ( 29400682 )
2018
8
Five-year serial follow-up of muscle MRI in adult onset myotonic dystrophy type 1: A case report. ( 29369170 )
2018
9
High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2. ( 28855409 )
2017
10
Myotonic Dystrophy Type 1 Clinical, Electrophysiological and Molecular Characterization: Experience at Tertiary Care Centre. ( 28782311 )
2017
11
Cognitive decline over time in adults with myotonic dystrophy type 1: A 9-year longitudinal study. ( 27919548 )
2017
12
Structure and Dynamics of RNA Repeat Expansions That Cause Huntington's Disease and Myotonic Dystrophy Type 1. ( 28617590 )
2017
13
Non invasive mechanical ventilation in myotonic dystrophy type 1? Hypoventilation versus quality of life prespective. ( 29358018 )
2017
14
Preferential changes of skeletal muscle echogenicity in myotonic dystrophy type 1. ( 27933692 )
2017
15
The proposal of a clinical protocol to assess central and peripheral fatigue in myotonic dystrophy type 1. ( 28715597 )
2017
16
Micro-RNA expression in muscle and fiber morphometry in myotonic dystrophy type 1. ( 28078570 )
2017
17
Childhood-onset form of myotonic dystrophy type 1 and autism spectrum disorder: Is there comorbidity? ( 29361396 )
2017
18
Genotype and other determinants of respiratory function in myotonic dystrophy type 1. ( 29398295 )
2017
19
CRISPR/Cas9-Mediated Deletion of CTG Expansions Recovers Normal Phenotype in Myogenic Cells Derived from Myotonic Dystrophy 1 Patients. ( 29246312 )
2017
20
Molecular genetic and clinical characterization of myotonic dystrophy type 1 patients carrying variant repeats within DMPK expansions. ( 28942489 )
2017
21
Investigation of the molecular mechanisms underlying myotonic dystrophy types 1 and 2 cataracts using microRNAa89target gene networks. ( 28731161 )
2017
22
The cognitive profile of myotonic dystrophy type 1:A A systematic review and meta-analysis. ( 28892766 )
2017
23
Preimplantation Genetic Diagnosis for Myotonic Dystrophy Type 1 and Analysis of the Effect of the Disease on the Reproductive Outcome of the Affected Female Patients. ( 29349085 )
2017
24
Non-invasive mechanical ventilation in myotonic dystrophy type 1? Hypoventilation versus quality of life perspective. ( 29352628 )
2017
25
Brain imaging in myotonic dystrophy type 1: A systematic review. ( 28768849 )
2017
26
Receptor and post-receptor abnormalities contribute to insulin resistance in myotonic dystrophy type 1 and type 2 skeletal muscle. ( 28915272 )
2017
27
Analysis of CTG repeat length variation in the DMPK gene in the general population and the molecular diagnosis of myotonic dystrophy type 1 in Malaysia. ( 28363916 )
2017
28
Relationships between grip strength, myotonia, and CTG expansion in myotonic dystrophy type 1. ( 29296622 )
2017
29
Role of electrophysiological evaluation for the best device choice to prevent sudden cardiac death in patients with Myotonic Dystrophy Type 1 and Emery Dreifuss Muscular Dystrophy. ( 28237579 )
2017
30
Prevalence of myotonic dystrophy type 1 in adults in western Sweden. ( 28082207 )
2016
31
Is one trial enough for repeated testing? Same-day assessments of walking, mobility and fine hand use in people with myotonic dystrophy type 1. ( 28062219 )
2016
32
In myotonic dystrophy type 1 reduced FDG-uptake on FDG-PET is most severe in Brodmann area 8. ( 27411408 )
2016
33
Neuromuscular transmission abnormalities in myotonic dystrophy type 1: A neurophysiological study. ( 27611986 )
2016
34
Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis. ( 27991661 )
2016
35
Overweight Is an Independent Risk Factor for Reduced Lung Volumes in Myotonic Dystrophy Type 1. ( 27015655 )
2016
36
Myotonic dystrophy type 1. ( 27270116 )
2016
37
Elevated FGF 21 in myotonic dystrophy type 1 and mitochondrial diseases. ( 27489983 )
2016
38
Development of pharmacophore models for small molecules targeting RNA: Application to the RNA repeat expansion in myotonic dystrophy type 1. ( 27839685 )
2016
39
Staufen1 Impairs Stress Granule Formation in Skeletal Muscle Cells from Myotonic Dystrophy type 1 Patients. ( 27030674 )
2016
40
Can long-term thiamine treatment improve the clinical outcomes of myotonic dystrophy type 1? ( 27857755 )
2016
41
Relationship between neuropsychological impairment and grey and white matter changes in adult-onset myotonic dystrophy type 1. ( 27437180 )
2016
42
Body composition and clinical outcome measures in patients with myotonic dystrophy type 1. ( 28082208 )
2016
43
A polymorphism in the MSH3 mismatch repair gene is associated with the levels of somatic instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 patients. ( 26994442 )
2016
44
Myotonic dystrophy type 1 presenting with asymmetric winged scapula. ( 26969833 )
2016
45
Renal dysfunction can be a common complication in patients with myotonic dystrophy 1. ( 27538647 )
2016
46
Cutaneous features of myotonic dystrophy types 1 and 2: Implication of premature aging and vitamin D homeostasis. ( 28065683 )
2016
47
Unravelling the myotonic dystrophy type 1 clinical spectrum: A systematic registry-based study with implications for disease classification. ( 27665240 )
2016
48
Relationship of white and gray matter abnormalities to clinical and genetic features in myotonic dystrophy type 1. ( 27330968 )
2016
49
Myotonic Dystrophy Type 1 with Syringomyelia in a Young Patient. ( 26879026 )
2016
50
Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1. ( 27905532 )
2016

Variations for Myotonic Dystrophy 1

ClinVar genetic disease variations for Myotonic Dystrophy 1:

6 (show top 50) (show all 141)
# Gene Variation Type Significance SNP ID Assembly Location
1 NM_001081563.1: c.*224_*226[(50-?)] NT expansion Pathogenic
2 DMPK NM_004409.4(DMPK): c.*224_*226[1140] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
3 DMPK NM_004409.4(DMPK): c.*224_*226[1142] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
4 DMPK NM_004409.4(DMPK): c.*224_*226[1189] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
5 DMPK NM_004409.4(DMPK): c.*224_*226[122] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
6 DMPK NM_004409.4(DMPK): c.*224_*226[1080] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
7 DMPK NM_004409.4(DMPK): c.*224_*226[102] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
8 DMPK NM_004409.4(DMPK): c.*224_*226[103] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
9 DMPK NM_004409.4(DMPK): c.*224_*226[107] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
10 DMPK NM_004409.4(DMPK): c.*224_*226[1236] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
11 DMPK NM_004409.4(DMPK): c.*224_*226[123] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
12 DMPK NM_004409.4(DMPK): c.*224_*226[124] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
13 DMPK NM_004409.4(DMPK): c.*224_*226[127] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
14 DMPK NM_004409.4(DMPK): c.*224_*226[131] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
15 DMPK NM_004409.4(DMPK): c.*224_*226[132] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
16 DMPK NM_004409.4(DMPK): c.*224_*226[134] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
17 DMPK NM_004409.4(DMPK): c.*224_*226[135] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
18 DMPK NM_004409.4(DMPK): c.*224_*226[142] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
19 DMPK NM_004409.4(DMPK): c.*224_*226[146] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
20 DMPK NM_004409.4(DMPK): c.*224_*226[1502] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
21 DMPK NM_004409.4(DMPK): c.*224_*226[158] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
22 DMPK NM_004409.4(DMPK): c.*224_*226[160] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
23 DMPK NM_004409.4(DMPK): c.*224_*226[1681] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
24 DMPK NM_004409.4(DMPK): c.*224_*226[168] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
25 DMPK NM_004409.4(DMPK): c.*224_*226[169] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
26 DMPK NM_004409.4(DMPK): c.*224_*226[175] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
27 DMPK NM_004409.4(DMPK): c.*224_*226[181] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
28 DMPK NM_004409.4(DMPK): c.*224_*226[182] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
29 DMPK NM_004409.4(DMPK): c.*224_*226[194] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
30 DMPK NM_004409.4(DMPK): c.*224_*226[195] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
31 DMPK NM_004409.4(DMPK): c.*224_*226[197] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
32 DMPK NM_004409.4(DMPK): c.*224_*226[214] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
33 DMPK NM_004409.4(DMPK): c.*224_*226[216] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
34 DMPK NM_004409.4(DMPK): c.*224_*226[225] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
35 DMPK NM_004409.4(DMPK): c.*224_*226[229] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
36 DMPK NM_004409.4(DMPK): c.*224_*226[232] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
37 DMPK NM_004409.4(DMPK): c.*224_*226[235] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
38 DMPK NM_004409.4(DMPK): c.*224_*226[236] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
39 DMPK NM_004409.4(DMPK): c.*224_*226[238] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
40 DMPK NM_004409.4(DMPK): c.*224_*226[241] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
41 DMPK NM_004409.4(DMPK): c.*224_*226[255] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
42 DMPK NM_004409.4(DMPK): c.*224_*226[256] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
43 DMPK NM_004409.4(DMPK): c.*224_*226[260] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
44 DMPK NM_004409.4(DMPK): c.*224_*226[261] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
45 DMPK NM_004409.4(DMPK): c.*224_*226[264] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
46 DMPK NM_004409.4(DMPK): c.*224_*226[265] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
47 DMPK NM_004409.4(DMPK): c.*224_*226[271] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
48 DMPK NM_004409.4(DMPK): c.*224_*226[281] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
49 DMPK NM_004409.4(DMPK): c.*224_*226[303] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
50 DMPK NM_004409.4(DMPK): c.*224_*226[307] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264

Expression for Myotonic Dystrophy 1

LifeMap Discovery
Genes differentially expressed in tissues of Myotonic Dystrophy 1 patients vs. healthy controls: 35 (show all 15)
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 MAFF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F Skeletal Muscle - 4.36 0.001
2 COL21A1 collagen, type XXI, alpha 1 Skeletal Muscle + 3.86 0.000
3 COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen) Skeletal Muscle + 3.81 0.000
4 RARRES1 retinoic acid receptor responder (tazarotene induced) 1 Skeletal Muscle - 3.53 0.003
5 NNMT nicotinamide N-methyltransferase Skeletal Muscle - 3.50 0.000
6 PRPF38B pre-mRNA processing factor 38B Skeletal Muscle + 3.48 0.000
7 NEB nebulin Skeletal Muscle + 3.42 0.000
8 RIF1 replication timing regulatory factor 1 Skeletal Muscle + 3.33 0.000
9 SPX spexin hormone Skeletal Muscle + 3.31 0.001
10 SCD5 stearoyl-CoA desaturase 5 Skeletal Muscle + 3.20 0.000
11 AQP4 aquaporin 4 Skeletal Muscle + 3.19 0.001
12 CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39) Skeletal Muscle - 3.09 0.009
13 SLC39A14 solute carrier family 39 (zinc transporter), member 14 Skeletal Muscle - 3.07 0.003
14 GOLGA8A golgin A8 family, member A Skeletal Muscle + 3.03 0.000
15 COL3A1 collagen, type III, alpha 1 Skeletal Muscle + 3.02 0.001
Search GEO for disease gene expression data for Myotonic Dystrophy 1.

Pathways for Myotonic Dystrophy 1

Pathways related to Myotonic Dystrophy 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.6 ATP2A1 PRKCA PRKCB
2 10.94 PRKCA PRKCB
3 10.88 PRKCA PRKCB
4 10.8 PRKCA PRKCB
5 10.78 ATP2A1 PRKCA PRKCB
6 10.42 PRKCA PRKCB

GO Terms for Myotonic Dystrophy 1

Cellular components related to Myotonic Dystrophy 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sarcoplasmic reticulum membrane GO:0033017 8.96 ATP2A1 DMPK
2 nuclear outer membrane GO:0005640 8.62 DHCR7 DMPK

Biological processes related to Myotonic Dystrophy 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptidyl-serine phosphorylation GO:0018105 9.33 DMPK PRKCA PRKCB
2 regulation of RNA splicing GO:0043484 9.13 CELF1 MBNL1 MBNL3
3 histone H3-T6 phosphorylation GO:0035408 8.62 PRKCA PRKCB

Molecular functions related to Myotonic Dystrophy 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein kinase C activity GO:0004697 9.16 PRKCA PRKCB
2 calcium-dependent protein kinase C activity GO:0004698 8.96 PRKCA PRKCB
3 histone kinase activity (H3-T6 specific) GO:0035403 8.62 PRKCA PRKCB

Sources for Myotonic Dystrophy 1

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