DM2
MCID: MYT020
MIFTS: 56

Myotonic Dystrophy 2 (DM2) malady

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

Aliases & Classifications for Myotonic Dystrophy 2

Aliases & Descriptions for Myotonic Dystrophy 2:

Name: Myotonic Dystrophy 2 54 66 13
Myotonic Dystrophy Type 2 12 23 50 24 56 29 14
Proximal Myotonic Myopathy 12 23 50 24 56 66
Promm 23 50 66 52
Ricker Syndrome 50 56 66
Dm2 50 24 66
Dystrophia Myotonica 2 66 69
Myotonic Disorders 42 69
Dystrophia Myotonica Type 2 50
Myotonic Myopathy, Proximal 50
Proximal Myotonic Dystrophy 56
Dystrophica Myotonica 2 24
Ricker Disease 56

Characteristics:

Orphanet epidemiological data:

56
proximal myotonic myopathy
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Germany),1-9/100000 (Europe),1-5/10000 (Finland),1-9/1000000 (United Kingdom); Age of onset: Adult; Age of death: elderly;

GeneReviews:

23
myotonic dystrophy 2:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Disease penetrance reflects both an individual's sensitivity for his/her symptoms and a physician's ability to correctly identify and interpret signs of the disease. as affected families and their physicians become increasingly aware of the clinical features of dm2, penetrance approaches 100%...

Classifications:



External Ids:

OMIM 54 602668
Disease Ontology 12 DOID:0050759
ICD10 33 G71.1 G71.19
ICD9CM 35 359.2
Orphanet 56 ORPHA606
MESH via Orphanet 43 D020967
UMLS via Orphanet 70 C0752354
ICD10 via Orphanet 34 G71.1

Summaries for Myotonic Dystrophy 2

NIH Rare Diseases : 50 myotonic dystrophy type 2, one of the two types of myotonic dystrophy, is an inherited muscular dystrophy that affects the muscles and other body systems (e.g., heart, eyes, and pancreas). it is characterized by prolonged muscle tensing (myotonia) as well as muscle weakness, pain, and stiffness. signs and symptoms usually develop during a person's twenties or thirties. muscles in the neck, fingers, elbows, and hips are typically affected; facial and ankle muscles are less commonly involved. the severity of myotonic dystrophy type 2 varies widely among affected people, even among family members. it is inherited in an autosomal dominant pattern and is caused by mutations in the cnbp gene. treatment is based on each person's specific signs and symptoms. last updated: 2/10/2014

MalaCards based summary : Myotonic Dystrophy 2, also known as myotonic dystrophy type 2, is related to myotonia congenita, atypical, acetazolamide-responsive and non-dystrophic myotonic disorders, and has symptoms including cataract, myotonia and myalgia. An important gene associated with Myotonic Dystrophy 2 is CNBP (CCHC-Type Zinc Finger Nucleic Acid Binding Protein). The drugs Ezetimibe and Simvastatin have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, eye and smooth muscle, and related phenotypes are growth/size/body region and muscle

Disease Ontology : 12 A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has physical basis in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one.

OMIM : 54 Myotonic dystrophy (DM) is a multisystem disorder and the most common form of muscular dystrophy in adults. Individuals... (602668) more...

UniProtKB/Swiss-Prot : 66 Dystrophia myotonica 2: A multisystem disease characterized by the association of proximal muscle weakness with myotonia, cardiac manifestations and cataract. Additional features can include hyperhidrosis, testicular atrophy, insulin resistance and diabetes and central nervous system anomalies in rare cases.

GeneReviews: NBK1466

Related Diseases for Myotonic Dystrophy 2

Graphical network of the top 20 diseases related to Myotonic Dystrophy 2:



Diseases related to Myotonic Dystrophy 2

Symptoms & Phenotypes for Myotonic Dystrophy 2

Symptoms by clinical synopsis from OMIM:

602668

Clinical features from OMIM:

602668

Human phenotypes related to Myotonic Dystrophy 2:

56 32 (show all 18)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 56 32 Very frequent (99-80%) HP:0000518
2 myotonia 56 32 Very frequent (99-80%) HP:0002486
3 myalgia 32 HP:0003326
4 diabetes mellitus 32 HP:0000819
5 elevated serum creatine phosphokinase 32 HP:0003236
6 hypogonadism 32 HP:0000135
7 oligospermia 32 HP:0000798
8 elevated follicle stimulating hormone 32 HP:0008232
9 igm deficiency 32 HP:0002850
10 igg deficiency 32 HP:0004315
11 tachycardia 32 HP:0001649
12 proximal muscle weakness 32 HP:0003701
13 frontal balding 32 HP:0002292
14 palpitations 32 HP:0001962
15 type 2 muscle fiber atrophy 32 HP:0003554
16 neck flexor weakness 32 HP:0003722
17 iridescent posterior subcapsular cataract 32 HP:0007889
18 insulin insensitivity 32 HP:0008189

UMLS symptoms related to Myotonic Dystrophy 2:


muscle cramp, muscle rigidity, muscle spasticity, muscle weakness, myalgia

MGI Mouse Phenotypes related to Myotonic Dystrophy 2:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.35 EEF2 MBNL1 SCN4A CLCN1 CNBP
2 muscle MP:0005369 8.92 CLCN1 DMPK MBNL1 SCN4A

Drugs & Therapeutics for Myotonic Dystrophy 2

Drugs for Myotonic Dystrophy 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 226)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ezetimibe Approved Phase 4 163222-33-1 150311
2
Simvastatin Approved Phase 4 79902-63-9 54454
3
Metformin Approved Phase 4,Phase 3,Phase 2,Phase 1 657-24-9 14219 4091
4
Zinc Approved Phase 4,Phase 3,Phase 2 7440-66-6 32051 23994
5
Everolimus Approved Phase 4 159351-69-6 6442177
6
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
7
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030 46835353
8
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
9
Liraglutide Approved Phase 4,Phase 3 204656-20-2
10
Glyburide Approved Phase 4,Phase 2 10238-21-8 3488
11
Vildagliptin Approved, Investigational Phase 4 274901-16-5 6918537
12
Insulin Glargine Approved Phase 4,Phase 3 160337-95-1
13
Insulin Lispro Approved Phase 4 133107-64-9
14
Exenatide Approved, Investigational Phase 4 141758-74-9 15991534
15
Canagliflozin Approved Phase 4 842133-18-0
16
Empagliflozin Approved Phase 4,Phase 3 864070-44-0
17
Linagliptin Approved Phase 4,Phase 3 668270-12-0 10096344
18
Orlistat Approved, Investigational Phase 4 96829-58-2 3034010
19
Cetirizine Approved Phase 4 83881-51-0 2678
20
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
21
Histamine Approved, Investigational Phase 4 75614-87-8, 51-45-6 774
22 Anticholesteremic Agents Phase 4
23 Antimetabolites Phase 4,Phase 3
24 Atorvastatin Calcium Phase 4 134523-03-8
25 Calcium, Dietary Phase 4,Phase 3
26 Ezetimibe, Simvastatin Drug Combination Phase 4
27 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
28 Hypolipidemic Agents Phase 4,Phase 3
29 Lipid Regulating Agents Phase 4,Phase 3
30 insulin Phase 4,Phase 3,Phase 2,Phase 1
31 Insulin, Globin Zinc Phase 4,Phase 3,Phase 2,Phase 1
32 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
33 Hormones Phase 4,Phase 3,Phase 2,Phase 1
34 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
35 Hypoglycemic Agents Phase 4,Phase 3,Phase 2,Phase 1
36 Sitagliptin Phosphate Phase 4,Phase 3
37 Anti-Bacterial Agents Phase 4,Phase 3
38 Antibiotics, Antitubercular Phase 4,Phase 3
39 Antifungal Agents Phase 4
40 Anti-Infective Agents Phase 4,Phase 3,Phase 2
41 Immunosuppressive Agents Phase 4,Phase 3,Phase 1
42 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1
43 Antimalarials Phase 4
44 Antiparasitic Agents Phase 4
45 Antiprotozoal Agents Phase 4
46 Matrix Metalloproteinase Inhibitors Phase 4
47 glucagon Phase 4,Phase 3
48 Glucagon-Like Peptide 1 Phase 4,Phase 3
49 Incretins Phase 4,Phase 3
50 Pharmaceutical Solutions Phase 4

Interventional clinical trials:

(show top 50) (show all 117)
id Name Status NCT ID Phase
1 Study to Compare the Effect of Vytorin (Simvastatin/Ezetimibe) 10/20mg Versus Atorvastatin 20mg on ApoB/ApoA1 Ratio in Subjects With Diabetes Unknown status NCT01185236 Phase 4
2 Comparison of Zotarolimus-Eluting Stent vs Sirolimus-Eluting Stent for Diabetic Patients Completed NCT01186107 Phase 4
3 Examination of the Anti-inflammatory and Insulin Sensitizing Properties of Doxycycline in Humans Completed NCT01375491 Phase 4
4 Effect of Liraglutide on Cardiovascular Endpoints in Diabetes Mellitus Type 2 Patients Completed NCT01761318 Phase 4
5 Vildagliptin vs. Glibenclamide in Endothelial Function in Type 2 Diabetes and Hypertension Completed NCT02145611 Phase 4
6 Effectiveness of PRECEDE Model for Health Education on Changes and Level of Control in Patients With Type 2 Diabetes Mellitus Completed NCT01316367 Phase 4
7 Glargine Versus NPH in Patients With Chronic Kidney Disease Completed NCT02451917 Phase 4
8 Dapagliflozin and Cholesterol Metabolism in Type 2 Diabetes (DM2) Recruiting NCT03074630 Phase 4
9 Effect of Liraglutide on Cardiovascular Endpoints in Diabetes Mellitus Type 2 Patients of South Asian Descent Recruiting NCT02660047 Phase 4
10 Sitagliptin + Metformin Compared to Metformin Monotherapy and Placebo in Women With a Recent GDM Recruiting NCT01856907 Phase 4
11 The Effect of the GLP-1 Receptor Agonists on Blood Levels of Lipoprotein (a) Recruiting NCT02501850 Phase 4
12 Effect of Dapagliflozin on Blood Pressure Variability in Prediabetes and Prehypertension Recruiting NCT03006471 Phase 4
13 Roux-en-Y Gastric Bypass for BMI 27-32 Type 2 Diabetes Versus Best Medical Treatment Recruiting NCT02041234 Phase 4
14 PRELIMINARY EVALUATION OF PHARMACOLOGICAL LOWERING OF AGEs Recruiting NCT02249897 Phase 4
15 Influence of OCT2 Inhibitor Cetirizine and Type 2 Diabetes on Gabapentin Kinetics Disposition in Patients With Neuropathic Pain Enrolling by invitation NCT03047278 Phase 4
16 Effect of the Chromium Nicotinate on Type 2 Diabetes Unknown status NCT01368328 Phase 3
17 A Double-Blind, Randomized, Active-Comparator (Metformin) Controlled, Clinical Trial to Study the Efficacy and Safety of the Strategy to Start Patients With Type 2 Diabetes Mellitus on Janumet™ Compared to Metformin Unknown status NCT00684528 Phase 3
18 Methylphenidate in Myotonic Dystrophy Type 1 Completed NCT01421992 Phase 2, Phase 3
19 Lamotrigine as Treatment of Myotonia Completed NCT01939561 Phase 3
20 Exalenz Lab Mode System Compared to Biopsy for H.Pylori Detection Completed NCT02528721 Phase 3
21 Combination Chemotherapy in Treating Children With Acute Lymphoblastic Leukemia Completed NCT00005585 Phase 3
22 Efficacy and Safety of DHEA for Myotonic Dystrophy Completed NCT00167609 Phase 2, Phase 3
23 A Multicenter Trial to Investigate Fesoterodine Sustained Release in Overactive Bladder Syndrome Completed NCT00220363 Phase 3
24 Phase 3 Clinical Study for the Treatment of Cold Sore Completed NCT00769314 Phase 3
25 Combined Liraglutide and Metformin Therapy in Women With Previous Gestational Diabetes Mellitus (GDM) Recruiting NCT01234649 Phase 3
26 Effects of Empagliflozin + Linagliptin vs Metformin + Insulin Glargine on Renal and Vascular Changes in Type 2 Diabetes Recruiting NCT02752113 Phase 3
27 Safety and Efficiency of Linagliptin (Trajenta) in the Setting of Internal Medicine Department Not yet recruiting NCT03051243 Phase 3
28 Inpatient Diabetes Mellitus (DM) Management With Continuous Glucose Monitoring Devices Not yet recruiting NCT02904512 Phase 2, Phase 3
29 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
30 Vascular Effects of Hesperidin in Metabolic Syndrome Unknown status NCT00914251 Phase 2
31 A Safety andTolerability Study of Multiple Doses of ISIS-DMPKRx in Adults With Myotonic Dystrophy Type 1 Completed NCT02312011 Phase 1, Phase 2
32 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
33 Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type 1 Completed NCT01406873 Phase 2
34 Effects of Atazanavir Treatment on Type 2 Diabetes Mellitus Related Endothelial Dysfunction Completed NCT00696722 Phase 2
35 Optimized Glycemic Control in Heart Failure Patients With DM2:"Effect on Left Ventricular Function and Skeletal Muscle" Completed NCT01213784 Phase 2
36 Effect of Ursolic Acid Administration on Insulin Sensitivity and Metabolic Syndrome Completed NCT02337933 Phase 2
37 Mulberry Leaf Extract and Blood Glucose Control in Diabetics Completed NCT01305434 Phase 1, Phase 2
38 The Effect of Hesperidin on Glucose / Insulin Metabolism Completed NCT02610491 Phase 2
39 Efficacy of Pirfenidone Plus MODD in Diabetic Foot Ulcers Completed NCT02632877 Phase 1, Phase 2
40 Study of Ranolazine in Myotonia Congenita, Paramyotonia Congenita and Myotonic Dystrophy Type 1 Recruiting NCT02251457 Phase 2
41 Improving Autonomic Function and Balance in Diabetic Neuropathy Recruiting NCT01864460 Phase 2
42 Safety and Effects of Autologous Adipose-Derived Stromal Cells Delivered in Patients With Type II Diabetes Recruiting NCT01453751 Phase 1, Phase 2
43 Study of Tideglusib in Adolescent and Adult Patients With Myotonic Dystrophy Recruiting NCT02858908 Phase 2
44 NEOADjuvant Aromatase Inhibitor and Pertuzumab/Trastuzumab for Women With Breast Cancer Recruiting NCT02689921 Phase 2
45 Effect of Green Tea Extract on Arterial Stiffness in Type 2 Diabetes Mellitus Not yet recruiting NCT02627898 Phase 2
46 Stromal Vascular Fraction for Treatment of Xerostomia Not yet recruiting NCT03061110 Phase 1, Phase 2
47 Trial of Dextromethorphan in Rett Syndrome Terminated NCT00593957 Phase 2
48 Effects of Drospirenone-ethinylestradiol and/or NOMAC-valerate Estradiol on Cardiovascular Risk in Women With Polycystic Ovary Syndrome Unknown status NCT01603745 Phase 1
49 BIOAVAILABILITY OF Glimepiride/Extended Release Metformin (GLI/METXR): High Fat Diet Study Completed NCT01437813 Phase 1
50 BIOAVAILABILITY OF GLI/METXR (4/850 mg) Completed NCT01437800 Phase 1

Search NIH Clinical Center for Myotonic Dystrophy 2

Cochrane evidence based reviews: myotonic disorders

Genetic Tests for Myotonic Dystrophy 2

Genetic tests related to Myotonic Dystrophy 2:

id Genetic test Affiliating Genes
1 Myotonic Dystrophy Type 2 29 24 CNBP

Anatomical Context for Myotonic Dystrophy 2

MalaCards organs/tissues related to Myotonic Dystrophy 2:

39
Skeletal Muscle, Eye, Smooth Muscle, Heart, Pancreas, Liver

Publications for Myotonic Dystrophy 2

Articles related to Myotonic Dystrophy 2:

id Title Authors Year
1
A Molecular Signature of Myalgia in Myotonic Dystrophy 2. ( 27322473 )
2016
2
Myotonic dystrophy 2 manifesting with non-alcoholic and non-hepatitic liver cirrhosis. ( 26138792 )
2015
3
Clinical, electrophysiologic and pathologic findings in 10 patients with myotonic dystrophy 2. ( 22332444 )
2011
4
Reduction of the rate of protein translation in patients with myotonic dystrophy 2. ( 19605641 )
2009
5
Expression of RNA CCUG repeats dysregulates translation and degradation of proteins in myotonic dystrophy 2 patients. ( 19590039 )
2009
6
Rational and modular design of potent ligands targeting the RNA that causes myotonic dystrophy 2. ( 19348464 )
2009
7
Electrophysiological studies in myotonic dystrophy. 2: Single fibre E.M.G. ( 6510352 )
1984

Variations for Myotonic Dystrophy 2

ClinVar genetic disease variations for Myotonic Dystrophy 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CNBP NM_003418.4(CNBP): c.-14-833_-14-830(75_11000) NT expansion Pathogenic rs387906559 GRCh37 Chromosome 3, 128891444: 128891447

Expression for Myotonic Dystrophy 2

LifeMap Discovery
Genes differentially expressed in tissues of Myotonic Dystrophy 2 patients vs. healthy controls: 35 (show all 19)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1 MAFF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F Skeletal Muscle - 4.77 0.000
2 COL21A1 collagen, type XXI, alpha 1 Skeletal Muscle + 3.98 0.000
3 SPX spexin hormone Skeletal Muscle + 3.70 0.000
4 COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen) Skeletal Muscle + 3.68 0.000
5 ATP1B4 ATPase, Na+/K+ transporting, beta 4 polypeptide Skeletal Muscle + 3.67 0.000
6 RARRES1 retinoic acid receptor responder (tazarotene induced) 1 Skeletal Muscle - 3.50 0.000
7 NEB nebulin Skeletal Muscle + 3.26 0.000
8 PPP1R3A protein phosphatase 1, regulatory subunit 3A Skeletal Muscle + 3.25 0.000
9 AQP4 aquaporin 4 Skeletal Muscle + 3.25 0.000
10 THBS1 thrombospondin 1 Skeletal Muscle - 3.21 0.000
11 CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39) Skeletal Muscle - 3.19 0.000
12 NNMT nicotinamide N-methyltransferase Skeletal Muscle - 3.14 0.000
13 PTX3 pentraxin 3, long Skeletal Muscle - 3.13 0.001
14 SCD5 stearoyl-CoA desaturase 5 Skeletal Muscle + 3.12 0.000
15 RIF1 replication timing regulatory factor 1 Skeletal Muscle + 3.10 0.000
16 SLC39A14 solute carrier family 39 (zinc transporter), member 14 Skeletal Muscle - 3.06 0.000
17 MT1M metallothionein 1M Skeletal Muscle - 3.03 0.000
18 NFIL3 nuclear factor, interleukin 3 regulated Skeletal Muscle - 3.02 0.000
19 PRPF38B pre-mRNA processing factor 38B Skeletal Muscle + 3.01 0.000
Search GEO for disease gene expression data for Myotonic Dystrophy 2.

Pathways for Myotonic Dystrophy 2

GO Terms for Myotonic Dystrophy 2

Biological processes related to Myotonic Dystrophy 2 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 regulation of ion transmembrane transport GO:0034765 8.96 CLCN1 SCN4A
2 muscle contraction GO:0006936 8.62 CLCN1 SCN4A

Molecular functions related to Myotonic Dystrophy 2 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 8.62 CLCN1 SCN4A

Sources for Myotonic Dystrophy 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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