DM2
MCID: MYT007
MIFTS: 56

Myotonic Dystrophy Type 2 (DM2) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Reproductive diseases, Endocrine diseases, Muscle diseases categories
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Summaries for Myotonic Dystrophy Type 2

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NIH Rare Diseases:42 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 Type 2, also known as proximal myotonic myopathy, is related to myotonic dystrophy type 1 and myotonic dystrophy, and has symptoms including cataract/lens opacification, myotonia and autosomal dominant inheritance. An important gene associated with Myotonic Dystrophy Type 2 is CNBP (CCHC-type zinc finger, nucleic acid binding protein), and among its related pathways is Hepatic ABC Transporters. The compounds poly c and polyethylene glycol have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and smooth muscle, and related mouse phenotype muscle.

Disease Ontology:8 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.

Description from OMIM:46 602668

GeneReviews summary for myotonic-d2

Aliases & Classifications for Myotonic Dystrophy Type 2

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Sources:
8Disease Ontology, 9diseasecard, 65Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 34MeSH, 26ICD10 via Orphanet, 63UMLS via Orphanet, 35MESH via Orphanet
See all sources

Myotonic Dystrophy Type 2, Aliases & Descriptions:

Name: Myotonic Dystrophy Type 2 8 65 19 42 48
Proximal Myotonic Myopathy 8 65 19 42 48
Myotonic Dystrophy 2 9 20 22 46
Promm 65 19 42 44
Ricker Syndrome 65 42 48
Proximal Myotonic Dystrophy 65 48
 
Myotonic Myopathy, Proximal 42 62
Dm2 65 42
Dystrophia Myotonica Type 2 42
Dystrophia Myotonica 2 62
Ricker Disease 48
Pdm 65


Classifications:



Characteristics (Orphanet epidemiological data):

48
proximal myotonic myopathy:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Adulthood; Age of death: Elderly


External Ids:

Disease Ontology8 DOID:0050759
MeSH34 D020967
OMIM46 602668
ICD10 via Orphanet26 G71.1
UMLS via Orphanet63 C0752354
MESH via Orphanet35 D020967

Related Diseases for Myotonic Dystrophy Type 2

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



Diseases related to myotonic dystrophy type 2

Symptoms for Myotonic Dystrophy Type 2

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Symptoms by clinical synopsis from OMIM:

602668

Clinical features from OMIM:

602668

Symptoms:

48
  • cataract/lens opacification
  • myotonia
  • autosomal dominant inheritance

HPO human phenotypes related to Myotonic Dystrophy Type 2:

(show all 20)
id Description Frequency HPO Source Accession
1 cataract hallmark (90%) HP:0000518
2 myotonia hallmark (90%) HP:0002486
3 autosomal dominant inheritance HP:0000006
4 hypogonadism HP:0000135
5 oligospermia HP:0000798
6 diabetes mellitus HP:0000819
7 tachycardia HP:0001649
8 palpitations HP:0001962
9 frontal balding HP:0002292
10 myotonia HP:0002486
11 igm deficiency HP:0002850
12 elevated serum creatine phosphokinase HP:0003236
13 myalgia HP:0003326
14 type 2 muscle fiber atrophy HP:0003554
15 proximal muscle weakness HP:0003701
16 neck flexor weakness HP:0003722
17 igg deficiency HP:0004315
18 iridescent posterior subcapsular cataract HP:0007889
19 insulin insensitivity HP:0008189
20 elevated follicle stimulating hormone HP:0008232

Drugs & Therapeutics for Myotonic Dystrophy Type 2

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Drug clinical trials:

Search ClinicalTrials for Myotonic Dystrophy Type 2

Search NIH Clinical Center for Myotonic Dystrophy Type 2

Genetic Tests for Myotonic Dystrophy Type 2

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Genetic tests related to Myotonic Dystrophy Type 2:

id Genetic test Affiliating Genes
1 Myotonic Dystrophy Type 220 22 CNBP

Anatomical Context for Myotonic Dystrophy Type 2

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MalaCards organs/tissues related to Myotonic Dystrophy Type 2:

32
Eye, Heart, Smooth muscle, Pancreas, Skeletal muscle, Brain, Testes

Animal Models for Myotonic Dystrophy Type 2 or affiliated genes

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MGI Mouse Phenotypes related to Myotonic Dystrophy Type 2:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5MBNL1, CHKB, CLCN1, INSR, DMPK

Publications for Myotonic Dystrophy Type 2

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Articles related to Myotonic Dystrophy Type 2:

(show top 50)    (show all 106)
idTitleAuthorsYear
1
Recent advances in myotonic dystrophy type 2. (24435591)
2014
2
Restless legs syndrome and daytime sleepiness are prominent in myotonic dystrophy type 2. (25092929)
2014
3
Does quantitative EMG differ myotonic dystrophy type 2 and type 1? (25052913)
2014
4
Generalized epilepsy in a patient with myotonic dystrophy type 2. (24277201)
2013
5
The frequency and severity of cardiac involvement in myotonic dystrophy type 2 (DM2): long-term outcomes. (23266299)
2013
6
Overexpression of CUGBP1 in Skeletal Muscle from Adult Classic Myotonic Dystrophy Type 1 but Not from Myotonic Dystrophy Type 2. (24376746)
2013
7
Sleep disordered breathing and other sleep dysfunction in myotonic dystrophy type 2. (22959494)
2012
8
Myotonic dystrophy type 2 and multiple sclerosis: case report. (22502787)
2012
9
REM behavior disorder in myotonic dystrophy type 2. (22689737)
2012
10
Deregulated microRNAs in myotonic dystrophy type 2. (22768114)
2012
11
Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2. (22407275)
2012
12
Myotonic dystrophy type 2 and autoimmune chronic gastritis: an incidental association? (21948056)
2011
13
Saccharomyces cerevisiae Gis2 interacts with the translation machinery and is orthogonal to myotonic dystrophy type 2 protein ZNF9. (21277287)
2011
14
Selective inhibition of MBNL1-CCUG interaction by small molecules toward potential therapeutic agents for myotonic dystrophy type 2 (DM2). (21768123)
2011
15
Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype. (21224892)
2011
16
Laboratory abnormalities in patients with myotonic dystrophy type 2. (21911698)
2011
17
Repeat-primed polymerase chain reaction in myotonic dystrophy type 2 testing. (21204698)
2011
18
Congenital talipes equinovarus associated with myotonic dystrophy type 2. (20665517)
2010
19
The myotonic dystrophy type 2 (DM2) gene product zinc finger protein 9 (ZNF9) is associated with sarcomeres and normally localized in DM2 patients' muscles. (20102514)
2010
20
ZNF9 activation of IRES-mediated translation of the human ODC mRNA is decreased in myotonic dystrophy type 2. (20174632)
2010
21
Mutant (CCTG)n expansion causes abnormal expression of zinc finger protein 9 (ZNF9) in myotonic dystrophy type 2. (20971734)
2010
22
Validation of sensitivity and specificity of tetraplet-primed PCR (TP-PCR) in the molecular diagnosis of myotonic dystrophy type 2 (DM2). (20616365)
2010
23
Absent, unrecognized, and minimal myotonic discharges in myotonic dystrophy type 2. (20513102)
2010
24
CCUG repeats reduce the rate of global protein synthesis in myotonic dystrophy type 2. (20458885)
2010
25
Poor sleep quality and fatigue but no excessive daytime sleepiness in myotonic dystrophy type 2. (20798200)
2010
26
Ribonuclear inclusions and MBNL1 nuclear sequestration do not affect myoblast differentiation but alter gene splicing in myotonic dystrophy type 2. (19345584)
2009
27
Ribonuclear inclusions as biomarker of myotonic dystrophy type 2, even in improperly frozen or defrozen skeletal muscle biopsies. (19683984)
2009
28
Strong association between myotonic dystrophy type 2 and autoimmune diseases. (19864666)
2009
29
Dysphagia is present but mild in myotonic dystrophy type 2. (19167224)
2009
30
RNA/MBNL1-containing foci in myoblast nuclei from patients affected by myotonic dystrophy type 2: an immunocytochemical study. (19864209)
2009
31
How much expansion to be diseased?: toward repeat size and myotonic dystrophy type 2. (19204257)
2009
32
Grey and white matter loss along cerebral midline structures in myotonic dystrophy type 2. (19224318)
2008
33
Left ventricular non-compaction in a patient with myotonic dystrophy type 2. (18395448)
2008
34
Myotonic dystrophy type 2 found in two of sixty-three persons diagnosed as having fibromyalgia. (18975316)
2008
35
Outcome and effect of pregnancy in myotonic dystrophy type 2. (16505316)
2006
36
Glucose metabolism and dopamine PET correlates in a patient with myotonic dystrophy type 2 and parkinsonism. (16484664)
2006
37
Multiple Myeloma and Peripheral Neuropathy in Myotonic Dystrophy Type 2 (DM2). (19078762)
2005
38
Sudden cardiac death in myotonic dystrophy type 2. (15623712)
2004
39
Muscle pathology in 57 patients with myotonic dystrophy type 2. (14755494)
2004
40
Biomolecular identification of (CCTG)n mutation in myotonic dystrophy type 2 (DM2) by FISH on muscle biopsy. (15718211)
2004
41
Homozygosity for CCTG mutation in myotonic dystrophy type 2. (15231584)
2004
42
Improvement of the diagnostic procedure in proximal myotonic myopathy/myotonic dystrophy type 2. (14666402)
2004
43
Cardiac and skeletal muscle involvement in myotonic dystrophy type 2 (DM2): a quantitative 31P-MRS and MRI study. (15452841)
2004
44
Myotonic dystrophy type 2 and related myotonic disorders. (15503094)
2004
45
Insulin receptor splicing alteration in myotonic dystrophy type 2. (15114529)
2004
46
Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. (12601109)
2003
47
Myotonic dystrophy type 2. (12220374)
2002
48
Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. (11486088)
2001
49
Thornton-Griggs-Moxley disease: myotonic dystrophy type 2. (7979231)
1994
50
Myotonic Dystrophy Type 2 (20301639)
1993

Variations for Myotonic Dystrophy Type 2

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Clinvar genetic disease variations for Myotonic Dystrophy Type 2:

6
id Gene Name Type Significance SNP ID Assembly Location
1CNBPNM_003418.4: c.-14-833_-11-830(75_11000)NT expansionPathogenicrs387906559GRCh37Chr 3, 128891444: 128891447

Expression for genes affiliated with Myotonic Dystrophy Type 2

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Expression patterns in normal tissues for genes affiliated with Myotonic Dystrophy Type 2

Search GEO for disease gene expression data for Myotonic Dystrophy Type 2.

Pathways for genes affiliated with Myotonic Dystrophy Type 2

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Pathways related to Myotonic Dystrophy Type 2 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6CLCN1, INSR

Compounds for genes affiliated with Myotonic Dystrophy Type 2

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Sources:
44Novoseek, 28IUPHAR
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Compounds related to Myotonic Dystrophy Type 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1poly c449.7CNBP, PCBP2
2polyethylene glycol449.5CHKB, INSR
3agarose449.5DMPK, CHKB, CNBP
4atp44 289.9DMPK, HSPA9, CHKB, CNBP
5glucose448.4DMPK, INSR, HSPA9, CHKB

GO Terms for genes affiliated with Myotonic Dystrophy Type 2

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Cellular components related to Myotonic Dystrophy Type 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:0058298.3PCBP2, CNBP, MTMR1, CHKB, DMPK

Molecular functions related to Myotonic Dystrophy Type 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ATP bindingGO:0055248.7CHKB, HSPA9, INSR, DMPK
2poly(A) RNA bindingGO:0448228.5MBNL1, PCBP2, CNBP, HSPA9

Products for genes affiliated with Myotonic Dystrophy Type 2

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Sources for Myotonic Dystrophy Type 2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet