Myotonic dystrophy type 2

Common Name(s)

Myotonic dystrophy type 2, Proximal Myotonic Myopathy

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.
 

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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.

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General Support Organizations

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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 38 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 CalabrĂ², 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

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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

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Overexpression of CUGBP1 in skeletal muscle from adult classic myotonic dystrophy type 1 but not from myotonic dystrophy type 2.
 

Author(s): Rosanna Cardani, Enrico Bugiardini, Laura V Renna, Giulia Rossi, Graziano Colombo, Rea Valaperta, Giuseppe Novelli, Annalisa Botta, Giovanni Meola

Journal:

 

Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are progressive multisystemic disorders caused by similar mutations at two different genetic loci. The common key feature of DM pathogenesis is nuclear accumulation of mutant RNA which causes aberrant alternative splicing of specific ...

Last Updated: 30 Dec 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 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

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

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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: 24 Feb 2015

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