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 during a person's twenties or thirties. 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 seen in patients with myotonic dystrophy type 2 tends to be milder than those observed in 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 mutations in the CNBP gene are responsible for myotonic dystrophy type 2.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

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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

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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: 8 Mar 2010

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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

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How do you compare to others with this condition?

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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

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

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

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Does a high percentage of right ventricular pacing influence the incidence of paroxysmal atrial fibrillation in myotonic dystrophy type 1 patients?
 

Author(s): Vincenzo Russo, Anna Rago, Andrea Antonio Papa, Luisa Politano, Paolo Golino, Maria Giovanna Russo, Raffaele Calabrò, Gerardo Nigro

Journal: Kardiol Pol. 2013 ;71(11):1147-53.

 

Paroxysmal atrial tachyarrhythmias occur frequently in myotonic dystrophy type 1 (MD1) patients. Pacemakers, implanted for the treatment of bradyarrhythmias and including detailed diagnostic functions, may facilitate the diagnosis and management of frequent paroxysmal atrial fibrillation ...

Last Updated: 3 Dec 2013

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Myotonic dystrophy protein kinase (DMPK) prevents ROS-induced cell death by assembling a hexokinase II-Src complex on the mitochondrial surface.
 

Author(s): B Pantic, E Trevisan, A Citta, M P Rigobello, O Marin, P Bernardi, S Salvatori, A Rasola

Journal:

 

The biological functions of myotonic dystrophy protein kinase (DMPK), a serine/threonine kinase whose gene mutations cause myotonic dystrophy type 1 (DM1), remain poorly understood. Several DMPK isoforms exist, and the long ones (DMPK-A/B/C/D) are associated with the mitochondria, ...

Last Updated: 18 Oct 2013

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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 17 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

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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

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Myotonic dystrophy, when simple repeats reveal complex pathogenic entities: new findings and future challenges.
 

Author(s): Géraldine Sicot, Geneviève Gourdon, Mário Gomes-Pereira

Journal: Hum. Mol. Genet.. 2011 Oct;20(R2):R116-23.

 

Expanded, non-coding RNAs can exhibit a deleterious gain-of-function causing human disease through abnormal interactions with RNA-binding proteins. Myotonic dystrophy (DM), the prototypical example of an RNA-dominant disorder, is mediated by trinucleotide repeat-containing transcripts ...

Last Updated: 28 Sep 2011

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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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: 21 Jan 2014

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Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type 1
 

Status: Recruiting

Condition Summary: Myotonic Dystrophy

 

Last Updated: 26 Feb 2014

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RAMYD Study - Evaluation of Arrhythmic Risk in Myotonic Dystrophy
 

Status: Recruiting

Condition Summary: Myotonic Dystrophy; Sudden Cardiac Death

 

Last Updated: 24 Aug 2005

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