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 57 75 13 38 73
Myotonic Dystrophy Type 1 12 24 53 59 15
Steinert Disease 57 12 53 59 75
Dystrophia Myotonica 57 12 76 75
Dm1 57 53 59 75
Steinert Myotonic Dystrophy Syndrome 29 6 40
Congenital Myotonic Dystrophy 12 53 73
Steinert Myotonic Dystrophy 53 59 75
Dystrophia Myotonica 1 57 75 6
Myotonic Dystrophy 44 73
Steinert's Disease 24 53
Dm 57 75
Myotonic Dystrophy of Steinert 12
Myotonic Dystrophy Congenital 55
Dystrophia Myotonica Type 1 53
Dystrophia Myotonica; Dm 57
Md1 59

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
myotonic dystrophy 1:
Inheritance autosomal dominant inheritance


GeneReviews:

24
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

NIH Rare Diseases : 53 Myotonic dystrophy type 1 (MD1), one of the two types of myotonic dystrophy, is an inherited type of muscular dystrophy that affects the muscles and other body systems (e.g., heart, eyes, endocrine system, and central nervous system). MD1 has three forms that somewhat overlap: the mild form, classic form, and congenital form (present at birth). The mild form has the least severe symptoms of the different forms of MD1 and is associated with a normal life span. The classic form is characterized by muscle weakness and wasting, prolonged muscle tensing (myotonia), cataract, and often, abnormal heart function. Adults with the classic form may become physically disabled and may have a shortened life span. The congenital form is characterized by severe generalized weakness at birth (hypotonia), often causing complications with breathing and early death. MD1 is inherited in an autosomal dominant manner and is caused by mutations in the DMPK gene. Treatment is based on the signs and symptoms present.

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 excessive daytime somnolence and weakness. An important gene associated with Myotonic Dystrophy 1 is DMPK (DM1 Protein Kinase), and among its related pathways/superpathways are Dopamine-DARPP32 Feedback onto cAMP Pathway and Calcium signaling pathway. The drugs Zinc and Insulin Aspart have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and brain, and related phenotypes are cryptorchidism and testicular atrophy

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.

OMIM : 57 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)

UniProtKB/Swiss-Prot : 75 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.

Wikipedia : 76 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:

57
Abdomen Gastrointestinal:
dysphagia
recurrent intestinal pseudoobstruction
poor feeding (congenital form)

Abdomen Biliary Tract:
cholelithiasis

GenitourinaryInternal GenitaliaMale:
hypogonadism
testicular atrophy

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
Skin Nails Hair Hair:
frontal balding (male pattern baldness)

Prenatal Manifestations Movement:
reduced fetal movements (congenital form)

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
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:

59 32 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
2 testicular atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000029
3 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
4 mask-like facies 59 32 hallmark (90%) Very frequent (99-80%) HP:0000298
5 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
6 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
7 abnormality of the endocrine system 59 32 frequent (33%) Frequent (79-30%) HP:0000818
8 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
9 hypertonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001276
10 respiratory distress 59 32 frequent (33%) Frequent (79-30%) HP:0002098
11 myotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002486
12 hip dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002827
13 skeletal muscle atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003202
14 emg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0003457
15 hernia of the abdominal wall 59 32 occasional (7.5%) Occasional (29-5%) HP:0004299
16 intellectual disability, progressive 59 32 frequent (33%) Frequent (79-30%) HP:0006887
17 facial palsy 59 32 frequent (33%) Frequent (79-30%) HP:0010628
18 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
19 abnormality of the upper urinary tract 59 32 occasional (7.5%) Occasional (29-5%) HP:0010935
20 abnormal hair quantity 59 32 frequent (33%) Frequent (79-30%) HP:0011362
21 first degree atrioventricular block 59 32 hallmark (90%) Very frequent (99-80%) HP:0011705
22 non-midline cleft lip 59 32 occasional (7.5%) Occasional (29-5%) HP:0100335
23 malformation of the heart and great vessels 59 Frequent (79-30%)
24 hypogonadism 32 HP:0000135
25 cholelithiasis 32 HP:0001081
26 generalized hypotonia 32 HP:0001290
27 muscle weakness 32 HP:0001324
28 facial diplegia 32 HP:0001349
29 decreased fetal movement 32 HP:0001558
30 polyhydramnios 32 HP:0001561
31 dysphagia 32 HP:0002015
32 cerebral atrophy 32 HP:0002059
33 excessive daytime sleepiness 32 HP:0002189
34 frontal balding 32 HP:0002292
35 atrial flutter 32 very rare (1%) HP:0004749
36 atrial fibrillation 32 very rare (1%) HP:0005110
37 obsessive-compulsive trait 32 HP:0008770
38 feeding difficulties in infancy 32 HP:0008872
39 abnormality of cardiovascular system morphology 32 frequent (33%) HP:0030680

UMLS symptoms related to Myotonic Dystrophy 1:


excessive daytime somnolence, weakness

MGI Mouse Phenotypes related to Myotonic Dystrophy 1:

46
# 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 168)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved, Investigational Phase 4,Phase 2,Not Applicable 7440-66-6 23994
2
Insulin Aspart Approved Phase 4 116094-23-6 16132418
3
Insulin Glargine Approved Phase 4 160337-95-1
4
Insulin glulisine Approved Phase 4 207748-29-6
5
Insulin Lispro Approved Phase 4 133107-64-9
6 Hypoglycemic Agents Phase 4,Phase 2,Not Applicable
7 insulin Phase 4,Phase 2,Phase 1,Not Applicable
8 Insulin, Globin Zinc Phase 4,Phase 2,Phase 1,Not Applicable
9 Insulin degludec, insulin aspart drug combination Phase 4
10 Insulin, Long-Acting Phase 4
11
Adenosine Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 58-61-7 60961
12
Trastuzumab Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 180288-69-1 9903
13
Dopamine Approved Phase 2, Phase 3,Phase 3 51-61-6, 62-31-7 681
14
Methylphenidate Approved, Investigational Phase 2, Phase 3 113-45-1 4158
15
Docetaxel Approved, Investigational Phase 3,Phase 2,Phase 1 114977-28-5 148124
16
Paclitaxel Approved, Vet_approved Phase 3,Phase 2,Phase 1 33069-62-4 36314
17
Pertuzumab Approved Phase 3,Phase 1,Phase 2 145040-37-5, 380610-27-5 2540
18
Capecitabine Approved, Investigational Phase 3,Phase 2 154361-50-9 60953
19
Tamoxifen Approved Phase 3,Phase 2 10540-29-1 2733526
20
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
21
Fesoterodine Approved Phase 3 286930-03-8, 286930-02-7 6918558
22
Acyclovir Approved Phase 3 59277-89-3 2022
23
Gemcitabine Approved Phase 3,Phase 1,Phase 2 95058-81-4 60750
24
Vinorelbine Approved, Investigational Phase 3,Phase 2,Phase 1 71486-22-1 60780 44424639
25
Apomorphine Approved, Investigational Phase 3 41372-20-7, 58-00-4 6005
26
Levodopa Approved Phase 3 59-92-7 6047
27
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
28
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 2, Phase 3 53-43-0 9860744
29
Lapatinib Approved March 2007, Investigational Phase 3,Phase 1,Phase 2 231277-92-2, 388082-78-8 208908 9941095
30 Ado-trastuzumab emtansine Phase 3,Phase 2,Phase 1,Not Applicable
31 Antimitotic Agents Phase 3,Phase 2,Phase 1,Not Applicable
32 Antineoplastic Agents, Phytogenic Phase 3,Phase 2,Phase 1,Not Applicable
33 Maytansine Phase 3,Phase 2,Phase 1,Not Applicable
34 Hormones Phase 3,Phase 1,Phase 2,Not Applicable
35 Mitogens Phase 3,Phase 2,Phase 1
36 Adjuvants, Immunologic Phase 2, Phase 3
37 Central Nervous System Stimulants Phase 2, Phase 3
38 Dopamine Agents Phase 2, Phase 3,Phase 3
39 Dopamine Uptake Inhibitors Phase 2, Phase 3
40 Neurotransmitter Agents Phase 2, Phase 3,Phase 3
41 Neurotransmitter Uptake Inhibitors Phase 2, Phase 3
42 Albumin-Bound Paclitaxel Phase 3,Phase 2,Phase 1
43 taxane Phase 3,Phase 2,Phase 1
44 Antimetabolites Phase 3,Phase 2,Phase 1
45 Antimetabolites, Antineoplastic Phase 3,Phase 2,Phase 1
46 Protein Kinase Inhibitors Phase 3,Phase 1,Phase 2
47 Aromatase Inhibitors Phase 3,Phase 2
48 Prolactin Release-Inhibiting Factors Phase 3,Phase 2
49 Anticonvulsants Phase 3
50 calcium channel blockers Phase 3

Interventional clinical trials:

(show top 50) (show all 147)
# 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 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
15 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
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 DS-8201a Versus T-DM1 for Human Epidermal Growth Factor Receptor 2 (HER2)-Positive, Unresectable and/or Metastatic Breast Cancer Previously Treated With Trastuzumab and Taxane Not yet recruiting NCT03529110 Phase 3 Trastuzumab deruxtecan (DS-8201a);Ado-trastuzumab emtansine (T-DM1)
21 DS-8201a Versus Investigator's Choice for HER2-positive, Unresectable and/or Metastatic Breast Cancer Pretreated With Prior Standard of Care Not yet recruiting NCT03523585 Phase 3 Trastuzumab deruxtecan;Capecitabine;Lapatinib;Trastuzumab
22 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
23 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
24 Validity of HER2-amplified Circulating Tumor Cells to Select Metastatic Breast Cancer Considered HER2-negative for Trastuzumab-emtansine (T-DM1) Treatment. Unknown status NCT01975142 Phase 2 Trastuzumab - Emtansine
25 Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type 1 Completed NCT01406873 Phase 2 Mexiletine;Placebo
26 Study of Tideglusib in Adolescent and Adult Patients With Myotonic Dystrophy Completed NCT02858908 Phase 2 Tideglusib
27 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
28 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
29 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
30 A Study of Trastuzumab-Mcc-DM1 Administered Intravenously to Patients With HER2-Positive Metastatic Breast Cancer Completed NCT00679211 Phase 2 Trastuzumab emtansine [Kadcyla]
31 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
32 Study of Ranolazine in Myotonia Congenita, Paramyotonia Congenita and Myotonic Dystrophy Type 1 Completed NCT02251457 Phase 2 Ranolazine
33 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]
34 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
35 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
36 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
37 MLN2704 in Subjects With Metastatic Androgen-Independent Prostate Cancer Completed NCT00070837 Phase 1, Phase 2 MLN2704 (DM1 conjugated monoclonal antibody MLN591)
38 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]
39 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
40 Transplantation of Autologous Stem Cells for the Treatment of Type 1 Diabetes Mellitus Completed NCT02644759 Phase 1, Phase 2
41 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
42 T-DM1+Pertuzumab in Pre-OP Early-Stage HER2+ BRCA Recruiting NCT02326974 Phase 2 T-DM1;Pertuzumab
43 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
44 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
45 DS-8201a in Human Epidermal Growth Factor Receptor 2 (HER2)-Positive Breast Cancer Recruiting NCT03248492 Phase 2 DS-8201a
46 Deciphering Antitumour Response and Resistance With INtratumour Heterogeneity Recruiting NCT02314481 Phase 2 MPDL3280A;Vemurafenib;Alectinib;Trastuzumab emtansine
47 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
48 TDM1 With Abraxane and Lapatinib for Metastatic HER2 Positive Breast Cancer Recruiting NCT02073916 Phase 1, Phase 2 TDM1;Lapatinib;Abraxane
49 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
50 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;Durvalumab plus Olaparib

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 29

Anatomical Context for Myotonic Dystrophy 1

MalaCards organs/tissues related to Myotonic Dystrophy 1:

41
Skeletal Muscle, Heart, Brain, Eye, Smooth Muscle, Testes, Prostate

Publications for Myotonic Dystrophy 1

Articles related to Myotonic Dystrophy 1:

(show top 50) (show all 461)
# Title Authors Year
1
Ankle Strength Impairments in Myotonic Dystrophy Type 1: A Five-Year Follow-up. ( 29889079 )
2018
2
Mechanisms of skeletal muscle wasting in a mouse model for myotonic dystrophy type 1. ( 29771332 )
2018
3
Participation and the Role of Neuropsychological Functioning in Myotonic Dystrophy Type 1. ( 29865086 )
2018
4
Swallowing impairments in Amyotrophic Lateral Sclerosis and Myotonic Dystrophy type 1: Looking for the portrait of dysphagic patient in neuromuscular diseases. ( 29400682 )
2018
5
Increased EEG Theta Spectral Power in Sleep in Myotonic Dystrophy Type 1. ( 29394960 )
2018
6
High-throughput analysis of the RNA-induced silencing complex in myotonic dystrophy type 1 patients identifies the dysregulation of miR-29c and its target ASB2. ( 29955039 )
2018
7
Myotonic dystrophy type 1 with diabetes mellitus, mixed hypogonadism and adrenal insufficiency. ( 29367875 )
2018
8
A 9-year follow-up study of quantitative muscle strength changes in myotonic dystrophy type 1. ( 29785524 )
2018
9
Erratum: Orexin/hypocretin levels in the cerebrospinal fluid and characteristics of patients with myotonic dystrophy type 1 with excessive daytime sleepiness [Corrigendum]. ( 29873326 )
2018
10
Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial. ( 29934199 )
2018
11
Macroscopic and microscopic diversity of missplicing in the central nervous system of patients with myotonic dystrophy type 1. ( 29381654 )
2018
12
Small Molecules Which Improve Pathogenesis of Myotonic Dystrophy Type 1. ( 29867749 )
2018
13
Five-year serial follow-up of muscle MRI in adult onset myotonic dystrophy type 1: A case report. ( 29369170 )
2018
14
De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1. ( 29967337 )
2018
15
Orexin/hypocretin levels in the cerebrospinal fluid and characteristics of patients with myotonic dystrophy type 1 with excessive daytime sleepiness. ( 29445282 )
2018
16
Recapitulating muscle disease phenotypes with myotonic dystrophy 1 iPS cells: a tool for disease modeling and drug discovery. ( 29898953 )
2018
17
Development and Validation of a New Scoring System to Predict Survival in Patients With Myotonic Dystrophy Type 1. ( 29404559 )
2018
18
Altered power spectral density in the resting-state sensorimotor network in patients with myotonic dystrophy type 1. ( 29343751 )
2018
19
Myotonic dystrophy type 1: clinical manifestations in children and adolescents. ( 29871899 )
2018
20
Myotonic dystrophy type 1: reasons to be OPTIMISTIC. ( 29934200 )
2018
21
Micro-RNA expression in muscle and fiber morphometry in myotonic dystrophy type 1. ( 28078570 )
2017
22
The proposal of a clinical protocol to assess central and peripheral fatigue in myotonic dystrophy type 1. ( 28715597 )
2017
23
Cognitive decline over time in adults with myotonic dystrophy type 1: A 9-year longitudinal study. ( 27919548 )
2017
24
Relationships between grip strength, myotonia, and CTG expansion in myotonic dystrophy type 1. ( 29296622 )
2017
25
Investigation of the molecular mechanisms underlying myotonic dystrophy types 1 and 2 cataracts using microRNAa89target gene networks. ( 28731161 )
2017
26
Non invasive mechanical ventilation in myotonic dystrophy type 1? Hypoventilation versus quality of life prespective. ( 29358018 )
2017
27
Myotonic Dystrophy Type 1 Clinical, Electrophysiological and Molecular Characterization: Experience at Tertiary Care Centre. ( 28782311 )
2017
28
Preferential changes of skeletal muscle echogenicity in myotonic dystrophy type 1. ( 27933692 )
2017
29
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
30
CRISPR/Cas9-Mediated Deletion of CTG Expansions Recovers Normal Phenotype in Myogenic Cells Derived from Myotonic Dystrophy 1 Patients. ( 29246312 )
2017
31
Structure and Dynamics of RNA Repeat Expansions That Cause Huntington's Disease and Myotonic Dystrophy Type 1. ( 28617590 )
2017
32
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
33
The cognitive profile of myotonic dystrophy type 1:A A systematic review and meta-analysis. ( 28892766 )
2017
34
Brain imaging in myotonic dystrophy type 1: A systematic review. ( 28768849 )
2017
35
Non-invasive mechanical ventilation in myotonic dystrophy type 1? Hypoventilation versus quality of life perspective. ( 29352628 )
2017
36
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
37
High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2. ( 28855409 )
2017
38
Genotype and other determinants of respiratory function in myotonic dystrophy type 1. ( 29398295 )
2017
39
Childhood-onset form of myotonic dystrophy type 1 and autism spectrum disorder: Is there comorbidity? ( 29361396 )
2017
40
Receptor and post-receptor abnormalities contribute to insulin resistance in myotonic dystrophy type 1 and type 2 skeletal muscle. ( 28915272 )
2017
41
Molecular genetic and clinical characterization of myotonic dystrophy type 1 patients carrying variant repeats within DMPK expansions. ( 28942489 )
2017
42
Genome therapy of myotonic dystrophy type 1 iPS cells for development of autologous stem cell therapy. ( 27203440 )
2016
43
Development of pharmacophore models for small molecules targeting RNA: Application to the RNA repeat expansion in myotonic dystrophy type 1. ( 27839685 )
2016
44
Myotonic dystrophy type 1 presenting with asymmetric winged scapula. ( 26969833 )
2016
45
Myotonic dystrophy type 1. ( 27270116 )
2016
46
Prevalence of myotonic dystrophy type 1 in adults in western Sweden. ( 28082207 )
2016
47
Muscle MRI of the Upper Extremity in the Myotonic Dystrophy Type 1. ( 27466802 )
2016
48
Factors influencing compliance with non-invasive ventilation at long-term in patients with myotonic dystrophy type 1: A prospective cohort. ( 27542439 )
2016
49
Relationship of white and gray matter abnormalities to clinical and genetic features in myotonic dystrophy type 1. ( 27330968 )
2016
50
Unravelling the myotonic dystrophy type 1 clinical spectrum: A systematic registry-based study with implications for disease classification. ( 27665240 )
2016

Variations for Myotonic Dystrophy 1

ClinVar genetic disease variations for Myotonic Dystrophy 1:

6
(show top 50) (show all 283)
# Gene Variation Type Significance SNP ID Assembly Location
1 DMPK NM_001081560.2(DMPK): c.*224_*226CTG(51_?) NT expansion Pathogenic rs55938914 GRCh37 Chromosome 19, 46273463: 46273465
2 DMPK NM_001081560.2(DMPK): c.*224_*226CTG(51_?) NT expansion Pathogenic rs55938914 GRCh38 Chromosome 19, 45770205: 45770207
3 NM_001081563.1: c.*224_*226[(50-?)] NT expansion Pathogenic
4 DMPK NM_004409.4(DMPK): c.*224_*226[1142] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
5 DMPK NM_004409.4(DMPK): c.*224_*226[1189] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
6 DMPK NM_004409.4(DMPK): c.*224_*226[1236] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
7 DMPK NM_004409.4(DMPK): c.*224_*226[123] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
8 DMPK NM_004409.4(DMPK): c.*224_*226[127] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
9 DMPK NM_004409.4(DMPK): c.*224_*226[131] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
10 DMPK NM_004409.4(DMPK): c.*224_*226[134] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
11 DMPK NM_004409.4(DMPK): c.*224_*226[135] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
12 DMPK NM_004409.4(DMPK): c.*224_*226[146] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
13 DMPK NM_004409.4(DMPK): c.*224_*226[1502] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
14 DMPK NM_004409.4(DMPK): c.*224_*226[160] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
15 DMPK NM_004409.4(DMPK): c.*224_*226[160] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
16 DMPK NM_004409.4(DMPK): c.*224_*226[1681] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
17 DMPK NM_004409.4(DMPK): c.*224_*226[1681] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
18 DMPK NM_004409.4(DMPK): c.*224_*226[168] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
19 DMPK NM_004409.4(DMPK): c.*224_*226[168] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
20 DMPK NM_004409.4(DMPK): c.*224_*226[169] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
21 DMPK NM_004409.4(DMPK): c.*224_*226[169] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
22 DMPK NM_004409.4(DMPK): c.*224_*226[132] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
23 DMPK NM_004409.4(DMPK): c.*224_*226[132] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
24 DMPK NM_004409.4(DMPK): c.*224_*226[134] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
25 DMPK NM_004409.4(DMPK): c.*224_*226[135] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
26 DMPK NM_004409.4(DMPK): c.*224_*226[142] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
27 DMPK NM_004409.4(DMPK): c.*224_*226[142] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
28 DMPK NM_004409.4(DMPK): c.*224_*226[146] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
29 DMPK NM_004409.4(DMPK): c.*224_*226[1502] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
30 DMPK NM_004409.4(DMPK): c.*224_*226[1140] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
31 DMPK NM_004409.4(DMPK): c.*224_*226[1142] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
32 DMPK NM_004409.4(DMPK): c.*224_*226[1189] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
33 DMPK NM_004409.4(DMPK): c.*224_*226[122] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
34 DMPK NM_004409.4(DMPK): c.*224_*226[122] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
35 DMPK NM_004409.4(DMPK): c.*224_*226[158] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
36 DMPK NM_004409.4(DMPK): c.*224_*226[1236] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
37 DMPK NM_004409.4(DMPK): c.*224_*226[123] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
38 DMPK NM_004409.4(DMPK): c.*224_*226[158] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
39 DMPK NM_004409.4(DMPK): c.*224_*226[124] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
40 DMPK NM_004409.4(DMPK): c.*224_*226[124] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
41 DMPK NM_004409.4(DMPK): c.*224_*226[127] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
42 DMPK NM_004409.4(DMPK): c.*224_*226[131] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
43 DMPK NM_004409.4(DMPK): c.*224_*226[102] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
44 DMPK NM_004409.4(DMPK): c.*224_*226[102] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
45 DMPK NM_004409.4(DMPK): c.*224_*226[103] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
46 DMPK NM_004409.4(DMPK): c.*224_*226[103] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
47 DMPK NM_004409.4(DMPK): c.*224_*226[107] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
48 DMPK NM_004409.4(DMPK): c.*224_*226[107] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
49 DMPK NM_004409.4(DMPK): c.*224_*226[1080] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
50 DMPK NM_004409.4(DMPK): c.*224_*226[1080] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522

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 11.94 ATP2A1 PRKCA PRKCB
2
Show member pathways
11.7 ATP2A1 PRKCA PRKCB
3 11.11 ATP2A1 PRKCA PRKCB
4 10.94 PRKCA PRKCB
5 10.87 PRKCA PRKCB
6 10.62 PRKCA PRKCB
7 10.36 MIR206 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 9.43 DMPK PRKCA PRKCB
2 cellular calcium ion homeostasis GO:0006874 9.33 ATP2A1 DMPK PRKCB
3 developmental process GO:0032502 9.32 MBNL1 MBNL3
4 regulation of RNA splicing GO:0043484 9.13 CELF1 MBNL1 MBNL3
5 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
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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