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

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 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

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 type 2" returned 41 free, full-text research articles on human participants. First 3 results:

Abnormal splicing of NEDD4 in myotonic dystrophy type 2: possible link to statin adverse reactions.
 

Author(s): Mark Screen, Per Harald Jonson, Olayinka Raheem, Johanna Palmio, Reijo Laaksonen, Terho Lehtimäki, Mario Sirito, Ralf Krahe, Peter Hackman, Bjarne Udd

Journal: Am. J. Pathol.. 2014 Aug;184(8):2322-32.

 

Myotonic dystrophy type 2 (DM2) is a multisystemic disorder caused by a (CCTG)n repeat expansion in intron 1 of CNBP. Transcription of the repeats causes a toxic RNA gain of function involving their accumulation in ribonuclear foci. This leads to sequestration of splicing factors ...

Last Updated: 21 Jul 2014

Go To URL
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
Genome wide identification of aberrant alternative splicing events in myotonic dystrophy type 2.
 

Author(s): Alessandra Perfetti, Simona Greco, Pasquale Fasanaro, Enrico Bugiardini, Rosanna Cardani, Jose M Garcia Manteiga, Michela Riba, Davide Cittaro, Elia Stupka, Giovanni Meola, Fabio Martelli

Journal:

 

Myotonic dystrophy type 2 (DM2) is a genetic, autosomal dominant disease due to expansion of tetraplet (CCTG) repetitions in the first intron of the ZNF9/CNBP gene. DM2 is a multisystemic disorder affecting the skeletal muscle, the heart, the eye and the endocrine system. According ...

Last Updated: 11 Apr 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 type 2" returned 0 free, full-text review articles on human participants.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Myotonic Dystrophy Family Registry
 

Status: Recruiting

Condition Summary: Myotonic Dystrophy; Congenital Myotonic Dystrophy; Myotonic Dystrophy 1; Myotonic Dystrophy 2; Dystrophia Myotonica; Dystrophia Myotonica 1; Dystrophia Myotonica 2; Myotonia Dystrophica; Myotonic Dystrophy, Congenital; Myotonic Myopathy, Proximal; PROMM (Proximal Myotonic Myopathy); Proximal Myotonic Myopathy; Steinert Disease; Steinert Myotonic Dystrophy; Steinert's Disease; Myotonia Atrophica

 

Last Updated: 24 Mar 2015

Go to URL
A Safety andTolerability Study of Multiple Doses of ISIS-DMPKRx in Adults With Myotonic Dystrophy Type 1
 

Status: Recruiting

Condition Summary: Myotonic Dystrophy Type 1

 

Last Updated: 18 Jun 2015

Go to URL