Myotonic dystrophy type 2

Common Name(s)

Myotonic dystrophy type 2, Proximal Myotonic Myopathy, DM2, PROMM

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.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Myotonic dystrophy type 2" 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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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Myotonic dystrophy type 2" 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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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 type 2" returned 44 free, full-text research articles on human participants. First 3 results:

Receptor and post-receptor abnormalities contribute to insulin resistance in myotonic dystrophy type 1 and type 2 skeletal muscle.
 

Author(s): Laura Valentina Renna, Francesca Bosè, Sara Iachettini, Barbara Fossati, Lorenzo Saraceno, Valentina Milani, Roberto Colombo, Giovanni Meola, Rosanna Cardani

Journal:

 

Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are autosomal dominant multisystemic disorders caused by expansion of microsatellite repeats. In both forms, the mutant transcripts accumulate in nuclear foci altering the function of alternative splicing regulators which are necessary ...

Last Updated: 15 Sep 2017

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Cardiac Involvement in Myotonic Dystrophy Type 2 Patients With Preserved Ejection Fraction: Detection by Cardiovascular Magnetic Resonance.
 

Author(s): Luisa Schmacht, Julius Traber, Ulrike Grieben, Wolfgang Utz, Matthias A Dieringer, Peter Kellman, Edyta Blaszczyk, Florian von Knobelsdorff-Brenkenhoff, Simone Spuler, Jeanette Schulz-Menger

Journal: Circ Cardiovasc Imaging. 2016 Jul;9(7):.

 

Myotonic dystrophy type 2 (DM2) is a genetic disorder characterized by skeletal muscle symptoms, metabolic changes, and cardiac involvement. Histopathologic alterations of the skeletal muscle include fibrosis and fatty infiltration. The aim of this study was to investigate whether ...

Last Updated: 1 Jul 2016

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Patient-Reported Impact of Symptoms in Myotonic Dystrophy Type 2 (PRISM-2).
 

Author(s): Chad Heatwole, Nicholas Johnson, Rita Bode, Jeanne Dekdebrun, Nuran Dilek, James E Hilbert, Elizabeth Luebbe, William Martens, Michael P McDermott, Christine Quinn, Nan Rothrock, Charles Thornton, Barbara G Vickrey, David Victorson, Richard T Moxley

Journal: Neurology. 2015 Dec;85(24):2136-46.

 

To determine the frequency and relative importance of the most life-affecting symptoms in myotonic dystrophy type 2 (DM2) and to identify the factors that have the strongest association with these symptoms.

Last Updated: 15 Dec 2015

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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 type 2" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 6 Sep 2017

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Joint Management of DM2 and Pulmonary TB in Orizaba, Veracruz
 

Status: Not yet recruiting

Condition Summary: Pulmonary Tuberculosis; Diabetes Mellitus, Type 2

 

Last Updated: 7 Sep 2017

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Autonomic Cardiovascular Neuropathy in Recently Diagnosed DM2 Patients (ACNDM2)
 

Status: Recruiting

Condition Summary: Dysautonomia

 

Last Updated: 12 Oct 2016

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