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

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: 15 Jul 2015

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.

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

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: 15 Jul 2015

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

Complete resolution of left atrial appendage thrombosis with oral dabigatran etexilate in a patient with Myotonic Dystrophy type 1 and atrial fibrillation.
 

Author(s): Anna Rago, Andrea Antonio Papa, Giulia Arena, Marco Mosella, Antonio Cassese, Alberto Palladino, Paolo Golino

Journal:

 

Myotonic Dystrophy type 1 (DM1) is the most common muscular dystrophy in adult life characterized by muscle dysfunction and cardiac conduction abnormalities. Atrial fibrillation frequently occurs in DM1 patients. It's related to the discontinuous and inhomogeneous propagation of sinus ...

Last Updated: 31 Dec 1969

Go To URL
Study of anti-Müllerian hormone levels in patients with Myotonic Dystrophy Type 1. Preliminary results.
 

Author(s): Manuela Ergoli, Massimo Venditti, Raffaele Dotolo, Esther Picillo, Sergio Minucci, Luisa Politano

Journal:

 

Myotonic dystrophy type 1 is a multisystemic disorder characterized by myotonia, muscle weakness and involvement of several organs and apparatus such as heart, lungs, eye, brain and endocrine system. Hypogonadism and reproductive abnormalities are frequently reported. A progressive ...

Last Updated: 31 Dec 1969

Go To URL
Bruno-3 regulates sarcomere component expression and contributes to muscle phenotypes of myotonic dystrophy type 1.
 

Author(s): Lucie Picchio, Vincent Legagneux, Stephane Deschamps, Yoan Renaud, Sabine Chauveau, Luc Paillard, Krzysztof Jagla

Journal:

 

Steinert disease, or myotonic dystrophy type 1 (DM1), is a multisystemic disorder caused by toxic noncoding CUG repeat transcripts, leading to altered levels of two RNA binding factors, MBNL1 and CELF1. The contribution of CELF1 to DM1 phenotypes is controversial. Here, we show that ...

Last Updated: 31 Dec 1969

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

A Review of Psychopathology Features, Personality, and Coping in Myotonic Dystrophy Type 1.
 

Author(s): Lisa Minier, Baptiste Lignier, Cyrille Bouvet, Benjamin Gallais, Nathalie Camart

Journal: J Neuromuscul Dis. ;5(3):279-294.

 

The last literature review on psychopathological features in Myotonic Dystrophy type 1 had been conducted by Ambrosini and Nurnberg in 1979. Since that date, many researches had been carried out.

Last Updated: 31 Dec 1969

Go To URL
Myotonic dystrophy: candidate small molecule therapeutics.
 

Author(s): Piotr Konieczny, Estela Selma-Soriano, Anna S Rapisarda, Juan M Fernandez-Costa, Manuel Perez-Alonso, Ruben Artero

Journal: Drug Discov. Today. 2017 11;22(11):1740-1748.

 

Myotonic dystrophy type 1 (DM1) is a rare multisystemic neuromuscular disorder caused by expansion of CTG trinucleotide repeats in the noncoding region of the DMPK gene. Mutant DMPK transcripts are toxic and alter gene expression at several levels. Chiefly, the secondary structure ...

Last Updated: 31 Dec 1969

Go To URL
Hard ways towards adulthood: the transition phase in young people with myotonic dystrophy.
 

Author(s): Sigrid Baldanzi, Giulia Ricci, Costanza Simoncini, Mirna Cosci O Di Coscio, Gabriele Siciliano

Journal: Acta Myol. 2016 Dec;35(3):145-149.

 

Myotonic dystrophy type 1 (DM1), also called Steinert's disease, is a genetic multisystem disorder that has raised, in the last years, high interest because of the high variable clinical spectrum and related disability. Children with myotonic dystrophy are affected by behavioural ...

Last Updated: 31 Dec 1969

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical Outcome Measures in Myotonic Dystrophy Type 2
 

Status: Recruiting

Condition Summary: Myotonic Dystrophy Type 2

 

Last Updated: 26 Jul 2018

Go to URL
Efficacy and Safety of Tideglusib in Congenital Myotonic Dystrophy
 

Status: Not yet recruiting

Condition Summary: Congenital Myotonic Dystrophy

 

Last Updated: 26 Sep 2018

Go to URL
Ventilatory Response After Non Invasive Ventilation in Type 1 Myotonic Dystrophy
 

Status: Recruiting

Condition Summary: Myotonic Dystrophy 1; Steinert Disease

 

Last Updated: 9 Jul 2018

Go to URL