DM2
MCID: MYT007
MIFTS: 48

Myotonic Dystrophy Type 2 (DM2) malady

Neuronal diseases, Eye diseases categories

Summaries for Myotonic Dystrophy Type 2

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42NIH Rare Diseases, 46OMIM, 19GeneReviews, 32MalaCards
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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: Myotonic Dystrophy Type 2, also known as proximal myotonic myopathy, is related to myotonic dystrophy and myotonic dystrophy type 1, 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). The compounds agarose and poly c have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and pancreas, and related mouse phenotype muscle.

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, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases, Eye diseases


Characteristics (Orphanet epidemiological data):

48
myotonic dystrophy type 2:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Adulthood; Age of death: Elderly


Aliases & Descriptions:

myotonic dystrophy type 2 8 63 19 42 48
proximal myotonic myopathy 63 19 42 48
myotonic dystrophy 2 9 20 22 46
promm 63 19 42 44
proximal myotonic dystrophy 63 48
myotonic myopathy, proximal 42 60
ricker syndrome 63 48
dm2 63 42
dystrophia myotonica type 2 42
dystrophia myotonica 2 60
ricker disease 48
pdm 63


External Ids:

Disease Ontology8 DOID:0050759
OMIM46 602668
MESH via Orphanet35 D020967
ICD10 via Orphanet26 G71.1
UMLS via Orphanet61 C0752354

Related Diseases for Myotonic Dystrophy Type 2

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Myotonic Dystrophy Type 2:



Diseases related to myotonic dystrophy type 2

Clinical Features for Myotonic Dystrophy Type 2

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46OMIM, 48Orphanet
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Clinical features from OMIM:

602668

Clinical synopsis from OMIM:

602668

Symptoms:

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

Drugs & Therapeutics for Myotonic Dystrophy Type 2

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Myotonic Dystrophy Type 2

Drug clinical trials:

Search ClinicalTrials for Myotonic Dystrophy Type 2

Search NIH Clinical Center for Myotonic Dystrophy Type 2

Search CenterWatch for Myotonic Dystrophy Type 2

Genetic Tests for Myotonic Dystrophy Type 2

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20GeneTests, 22GTR
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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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32MalaCards
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MalaCards organs/tissues related to Myotonic Dystrophy Type 2:

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

Animal Models for Myotonic Dystrophy Type 2 or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Myotonic Dystrophy Type 2:

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

Publications for Myotonic Dystrophy Type 2

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50PubMed
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Articles related to Myotonic Dystrophy Type 2:

(show top 50)    (show all 115)
idTitleAuthorsYear
1
Recent advances in myotonic dystrophy type 2. (24435591)
2014
2
Clinical and genetic analysis of the first known Asian family with myotonic dystrophy type 2. (24430576)
2014
3
Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies. (24332166)
2013
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
Uninterrupted CCTG tracts in the myotonic dystrophy type 2 associated locus. (23561036)
2013
8
The coexistence of myasthenia gravis and myotonic dystrophy type 2 in a single patient. (23626652)
2013
9
Teaching video neuroimages: trapezius myotonia percussion sign in myotonic dystrophy type 2. (23751923)
2013
10
Alternative splicing of human insulin receptor gene (INSR) in type I and type II skeletal muscle fibers of patients with myotonic dystrophy type 1 and type 2. (23666741)
2013
11
Myotonic dystrophy type 2 and multiple sclerosis: case report. (22502787)
2012
12
Activation of the innate immune response and interferon signalling in myotonic dystrophy type 1 and type 2 cataracts. (22062891)
2012
13
Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2. (22643181)
2012
14
Delayed contrast enhancement on cardiac MRI unmasks subclinical cardiomyopathy in a case of myotonic dystrophy type 2. (22796821)
2012
15
Myotonic dystrophy type 2 is rare in the Japanese population. (22258159)
2012
16
Severe dilated cardiomyopathy in a patient with myotonic dystrophy type 2 and homozygous repeat expansion in ZNF9. (22587749)
2012
17
ClC1 chloride channel in myotonic dystrophy type 2 and ClC1 splicing in vitro. (23097607)
2012
18
Myotonic dystrophy type 2 and autoimmune chronic gastritis: an incidental association? (21948056)
2011
19
Saccharomyces cerevisiae Gis2 interacts with the translation machinery and is orthogonal to myotonic dystrophy type 2 protein ZNF9. (21277287)
2011
20
Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland. (21364698)
2011
21
High disease impact of myotonic dystrophy type 2 on physical and mental functioning. (21461958)
2011
22
Myotonic dystrophy types 1 and 2. (21496635)
2011
23
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
24
Validation of sensitivity and specificity of tetraplet-primed PCR (TP-PCR) in the molecular diagnosis of myotonic dystrophy type 2 (DM2). (20616365)
2010
25
Anesthesia and myotonic dystrophy type 2: a case series. (20077169)
2010
26
Analysis of MTMR1 expression and correlation with muscle pathological features in juvenile/adult onset myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2). (20685272)
2010
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
Myotonic dystrophy type 2 with focal asymmetric muscle weakness and no electrical myotonia. (19208413)
2009
31
A Z-DNA sequence reduces slipped-strand structure formation in the myotonic dystrophy type 2 (CCTG) x (CAGG) repeat. (19218442)
2009
32
Left ventricular dysfunction and cardiac arrhythmias are frequent in type 2 myotonic dystrophy: a case control study. (19481939)
2009
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
Gastrointestinal involvement is frequent in Myotonic Dystrophy type 2. (18602828)
2008
36
Early dopasensitive Parkinsonism related to myotonic dystrophy type 2. (18759330)
2008
37
Colocalization of ribonuclear inclusions with muscle blind like-proteins in a family with myotonic dystrophy type 2 associated with a short CCTG expansion. (18804219)
2008
38
Preferential central nucleation of type 2 myofibers is an invariable feature of myotonic dystrophy type 2. (18816606)
2008
39
Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families. (18057971)
2008
40
Outcome and effect of pregnancy in myotonic dystrophy type 2. (16505316)
2006
41
Glucose metabolism and dopamine PET correlates in a patient with myotonic dystrophy type 2 and parkinsonism. (16484664)
2006
42
Sudden cardiac death in myotonic dystrophy type 2. (15623712)
2004
43
Biomolecular identification of (CCTG)n mutation in myotonic dystrophy type 2 (DM2) by FISH on muscle biopsy. (15718211)
2004
44
Homozygosity for CCTG mutation in myotonic dystrophy type 2. (15231584)
2004
45
Myotonic dystrophy type 2 and related myotonic disorders. (15503094)
2004
46
Insulin receptor splicing alteration in myotonic dystrophy type 2. (15114529)
2004
47
Hairpin structure-forming propensity of the (CCTG.CAGG) tetranucleotide repeats contributes to the genetic instability associated with myotonic dystrophy type 2. (15292165)
2004
48
Myotonic dystrophy type 2: human founder haplotype and evolutionary conservation of the repeat tract. (14505273)
2003
49
Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2. (11590133)
2001
50
Thornton-Griggs-Moxley disease: myotonic dystrophy type 2. (7979231)
1994

Genetic Variations for Myotonic Dystrophy Type 2

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Expression for genes affiliated with Myotonic Dystrophy Type 2

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Myotonic Dystrophy Type 2

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Pathways for genes affiliated with Myotonic Dystrophy Type 2

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Compounds for genes affiliated with Myotonic Dystrophy Type 2

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44Novoseek
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Compounds related to Myotonic Dystrophy Type 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1agarose449.5CNBP, CHKB, DMPK
2poly c449.4PCBP2, CNBP

GO Terms for genes affiliated with Myotonic Dystrophy Type 2

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Products for genes affiliated with Myotonic Dystrophy Type 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet