Myotonic dystrophy

Common Name(s)

Myotonic dystrophy

Myotonic dystrophy is an inherited condition that affects the muscles and other body systems. It is the most common form of muscular dystrophy that begins in adulthood, usually in a person's 20s or 30s. This condition is characterized by progressive muscle loss and weakness, particularly in the lower legs, hands, neck, and face. People with myotonic dystrophy often have prolonged muscle tensing (myotonia) and are not able to relax certain muscles after use. The severity of the condition varies widely among affected people, even among members of the same family.

There are two types of myotonic dystrophy: myotonic dystrophy type 1 and myotonic dystrophy type 2. The symptoms in people with myotonic dystrophy type 2 tend to be milder than in those with type 1. Although both types are inherited in an autosomal dominant pattern, they are caused by mutations in different genes. Myotonic dystrophy type 1 is caused by mutations in the DMPK gene, while type 2 is caused by mutations in the CNBP gene.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Myotonic dystrophy" for support, advocacy or research.

Myotonic Dystrophy Foundation

The Myotonic Dystrophy Foundation (MDF) exists to enhance the quality of life of people living with myotonic dystrophy (DM), and to maximize research efforts focused on finding treatments and a cure for this disease, through community support, education, advocacy and research. Community Support & Education - MDF programs and services provide emotional support and education to help affected individuals and their families, and information and resources to raise awareness about DM in the medical community and the general population. Advocacy - Through MDF-sponsored initiatives and in partnership with other rare disease organizations, the Foundation advocates for increased funding for DM research and patient support services. Research - MDF raises funds to accelerate understanding of DM through research. MDF supports both clinical and scientific research targeted to finding treatments and eventually a cure for this chronic, degenerative disease.

Last Updated: 20 Apr 2015

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Muscular Dystrophy Association

MDA is the nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research. The Association also provides comprehensive health care and support services, advocacy and education.

Last Updated: 15 Jul 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Myotonic dystrophy" for support, advocacy or research.

Myotonic Dystrophy Foundation

The Myotonic Dystrophy Foundation (MDF) exists to enhance the quality of life of people living with myotonic dystrophy (DM), and to maximize research efforts focused on finding treatments and a cure for this disease, through community support, education, advocacy and research. Community Support & Education - MDF programs and services provide emotional support and education to help affected individuals and their families, and information and resources to raise awareness about DM in the medical community and the general population. Advocacy - Through MDF-sponsored initiatives and in partnership with other rare disease organizations, the Foundation advocates for increased funding for DM research and patient support services. Research - MDF raises funds to accelerate understanding of DM through research. MDF supports both clinical and scientific research targeted to finding treatments and eventually a cure for this chronic, degenerative disease.

http://www.myotonic.org

Last Updated: 20 Apr 2015

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Muscular Dystrophy Association

MDA is the nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research. The Association also provides comprehensive health care and support services, advocacy and education.

http://www.mdausa.org

Last Updated: 15 Jul 2015

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Myotonic dystrophy" returned 610 free, full-text research articles on human participants. First 3 results:

CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy.
 

Author(s): Lise Barbé, Stella Lanni, Arturo López-Castel, Silvie Franck, Claudia Spits, Kathelijn Keymolen, Sara Seneca, Stephanie Tomé, Ioana Miron, Julie Letourneau, Minggao Liang, Sanaa Choufani, Rosanna Weksberg, Michael D Wilson, Zdenek Sedlacek, Cynthia Gagnon, Zuzana Musova, David Chitayat, Patrick Shannon, Jean Mathieu, Karen Sermon, Christopher E Pearson

Journal: Am. J. Hum. Genet.. 2017 Mar;100(3):488-505.

 

CTG repeat expansions in DMPK cause myotonic dystrophy (DM1) with a continuum of severity and ages of onset. Congenital DM1 (CDM1), the most severe form, presents distinct clinical features, large expansions, and almost exclusive maternal transmission. The correlation between CDM1 ...

Last Updated: 4 Mar 2017

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Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA).
 

Author(s): Giovanni DiPaolo, Cecilia Jimenez-Moreno, Nikoletta Nikolenko, Antonio Atalaia, Darren G Monckton, Michela Guglieri, Hanns Lochmüller

Journal: J. Neurol.. 2017 Apr;264(4):701-708.

 

Myotonic dystrophy type 1 (DM1) is not characterised by ataxia per se; however, DM1 and ataxia patients show similar disturbances in movement coordination often experiencing walking and balance difficulties, although caused by different underlying pathologies. This study aims to investigate ...

Last Updated: 7 Feb 2017

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CRISPR/Cas9-Induced (CTG⋅CAG)n Repeat Instability in the Myotonic Dystrophy Type 1 Locus: Implications for Therapeutic Genome Editing.
 

Author(s): Ellen L van Agtmaal, Laurène M André, Marieke Willemse, Sarah A Cumming, Ingeborg D G van Kessel, Walther J A A van den Broek, Geneviève Gourdon, Denis Furling, Vincent Mouly, Darren G Monckton, Derick G Wansink, Bé Wieringa

Journal: Mol. Ther.. 2017 Jan;25(1):24-43.

 

Myotonic dystrophy type 1 (DM1) is caused by (CTG⋅CAG)n-repeat expansion within the DMPK gene and thought to be mediated by a toxic RNA gain of function. Current attempts to develop therapy for this disease mainly aim at destroying or blocking abnormal properties of mutant DMPK ...

Last Updated: 27 Jan 2017

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Myotonic dystrophy" returned 23 free, full-text review articles on human participants. First 3 results:

Myotonic dystrophy kinase-related Cdc42-binding kinases (MRCK), the ROCK-like effectors of Cdc42 and Rac1.
 

Author(s): Zhuoshen Zhao, Ed Manser

Journal: Small GTPases. 2015 ;6(2):81-8.

 

Cdc42 is a member of the Rho GTPase protein family that plays key roles in local F-actin organization through a number of kinase and non-kinase effector proteins. The myotonic dystrophy kinase-related Cdc42-binding kinases (MRCKs), and the RhoA binding coiled-coil containing kinases ...

Last Updated: 27 Jul 2015

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Myotonic dystrophy.
 

Author(s): Charles A Thornton

Journal: Neurol Clin. 2014 Aug;32(3):705-19, viii.

 

Myotonic dystrophy (dystrophia myotonica, DM) is one of the most common lethal monogenic disorders in populations of European descent. DM type 1 was first described over a century ago. More recently, a second form of the disease, DM type 2 was recognized, which results from repeat ...

Last Updated: 19 Jul 2014

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Molecular genetics and genetic testing in myotonic dystrophy type 1.
 

Author(s): Dušanka Savić Pavićević, Jelena Miladinović, Miloš Brkušanin, Saša Šviković, Svetlana Djurica, Goran Brajušković, Stanka Romac

Journal: Biomed Res Int. 2013 ;2013():391821.

 

Myotonic dystrophy type 1 (DM1) is the most common adult onset muscular dystrophy, presenting as a multisystemic disorder with extremely variable clinical manifestation, from asymptomatic adults to severely affected neonates. A striking anticipation and parental-gender effect upon ...

Last Updated: 15 Apr 2013

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Clinical Trial Information This information is provided by ClinicalTrials.gov

PhenoDM1 (Myotonic Dystrophy Type 1 Natural History Study)
 

Status: Recruiting

Condition Summary: Myotonic Dystrophy Type 1

 

Last Updated: 29 Mar 2017

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Sleep Breathing Disorders, a Main Trigger for Cardiac ARythmias in Type I Myotonic Dystrophy ?
 

Status: Recruiting

Condition Summary: Myotonic Dystrophy

 

Last Updated: 10 Nov 2016

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Ventilatory Response After Non Invasive Ventilation in Type 1 Myotonic Dystrophy
 

Status: Recruiting

Condition Summary: Myotonic Dystrophy 1; Steinert Disease

 

Last Updated: 12 Sep 2016

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