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.

Logo
International Myotonic Dystrophy Organization

The International Myotonic Dystrophy Organization helps bring awareness, education, resources and hope to people touched by Myotonic Dystrophy.

Last Updated: 28 Apr 2010

View Details
Logo
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: 8 Mar 2010

View Details
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: 11 Dec 2012

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

Logo
International Myotonic Dystrophy Organization

The International Myotonic Dystrophy Organization helps bring awareness, education, resources and hope to people touched by Myotonic Dystrophy.

http://www.myotonicdystrophy.org

Last Updated: 28 Apr 2010

View Details
Logo
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: 8 Mar 2010

View Details
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: 11 Dec 2012

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 537 free, full-text research articles on human participants. First 3 results:

Atrial fibrillation burden in Myotonic Dystrophy type 1 patients implanted with dual chamber pacemaker: the efficacy of the overdrive atrial algorithm at 2 year follow-up.
 

Author(s): Vincenzo Russo, Gerardo Nigro, Anna Rago, Andrea Antonio Papa, Riccardo Proietti, Nadia Della Cioppa, Anna Cristiano, Alberto Palladino, Raffaele Calabrò, Luisa Politano

Journal: Acta Myol. 2013 Dec;32(3):142-7.

 

The role that atrial pacing therapy plays on the atrial fibrillation (AF) burden is still unclear. Aim of the study was to evaluate the effect of the atrial preference pacing algorithm on AF burden in patients affected by Myotonic Dystrophy type 1 (DM1) followed for a long follow ...

Last Updated: 7 May 2014

Go To URL
The Mef2 transcription network is disrupted in myotonic dystrophy heart tissue, dramatically altering miRNA and mRNA expression.
 

Author(s): Auinash Kalsotra, Ravi K Singh, Priyatansh Gurha, Amanda J Ward, Chad J Creighton, Thomas A Cooper

Journal: Cell Rep. 2014 Jan;6(2):336-45.

 

Cardiac dysfunction is the second leading cause of death in myotonic dystrophy type 1 (DM1), primarily because of arrhythmias and cardiac conduction defects. A screen of more than 500 microRNAs (miRNAs) in a DM1 mouse model identified 54 miRNAs that were differentially expressed in ...

Last Updated: 3 Feb 2014

Go To URL
Hypogonadism and erectile dysfunction in myotonic dystrophy type 1.
 

Author(s): Stojan Peric, Tanja Nisic, Milena Milicev, Ivana Basta, Ivan Marjanovic, Marina Peric, Dragana Lavrnic, Vidosava Rakocevic Stojanovic

Journal: Acta Myol. 2013 Oct;32(2):106-9.

 

Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy in adults. It affects many organs and systems besides muscle. Aim of this study was to assess frequency of erectile dysfunction (ED) and hypogonadism, the correlation between them and the impact of ED on ...

Last Updated: 8 Jan 2014

Go To URL

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 22 free, full-text review articles on human participants. First 3 results:

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

Go To URL
Antisense oligonucleotides: rising stars in eliminating RNA toxicity in myotonic dystrophy.
 

Author(s): Zhihua Gao, Thomas A Cooper

Journal: Hum. Gene Ther.. 2013 May;24(5):499-507.

 

Myotonic dystrophy (DM) is a dominantly inherited, multisystemic disease caused by expanded CTG (type 1, DM1) or CCTG (type 2, DM2) repeats in untranslated regions of the mutated genes. Pathogenesis results from expression of RNAs from the mutated alleles that are toxic because of ...

Last Updated: 16 May 2013

Go To URL
Skeletal muscle features in myotonic dystrophy and sarcopenia: do similar nuclear mechanisms lead to skeletal muscle wasting?
 

Author(s): M Malatesta

Journal:

 

In the cell nucleus, the gene primary transcripts undergo molecular processing to generate mature RNAs, which are finally exported to the cytoplasm. These mRNA maturation events are chronologically and spatially ordered, and mostly occur on distinct ribonucleoprotein (RNP)-containing ...

Last Updated: 2 Oct 2012

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry
 

Status: Recruiting

Condition Summary: Myotonic Dystrophy; Muscular Dystrophy, Facioscapulohumeral; Muscular Dystrophy

 

Last Updated: 4 Aug 2014

Go to URL
Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type 1
 

Status: Recruiting

Condition Summary: Myotonic Dystrophy

 

Last Updated: 6 Aug 2014

Go to URL
RAMYD Study - Evaluation of Arrhythmic Risk in Myotonic Dystrophy
 

Status: Recruiting

Condition Summary: Myotonic Dystrophy; Sudden Cardiac Death

 

Last Updated: 24 Aug 2005

Go to URL