Myotonic dystrophy type 1

Common Name(s)

Myotonic dystrophy type 1, Steinert myotonic dystrophy syndrome

Myotonic dystrophy type 1, one of the two types of myotonic dystrophy, is an inherited type of muscular dystrophy that affects the muscles and other body systems (e.g., heart, eyes, pancreas).   Myotonic dystrophy type 1 has been categorized into three somewhat overlapping subtypes: mild, classic, and congenital (present at birth). Symptoms of the mild form are the least severe with a normal life span. The classic form is characterized by muscle weakness and wasting, prolonged muscle tensing (myotonia), cataract, and often abnormal heart function; adults may become physically disabled and may have a shortened life span. The congenital form is characterized by severe generalized weakeness at birth (hypotonia), often causing complications with breathing and early death. The condition is inherited in an autosomal dominant pattern and is caused by mutations in the DMPK gene.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Myotonic dystrophy type 1" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 1" returned 94 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 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

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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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Orthopaedic Disorders in Myotonic Dystrophy Type 1: descriptive clinical study of 21 patients.
 

Author(s): Lisa Schilling, Raimund Forst, Jürgen Forst, Albert Fujak

Journal:

 

Myotonic Dystrophy Type 1 (DM1) is the most common form of hereditary myopathy presenting in adults. This autosomal-dominant systemic disorder is caused by a CTG repeat, demonstrating various symptoms. A mild, classic and congenital form can be distinguished. Often the quality of ...

Last Updated: 9 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 1" returned 2 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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Therapeutics development in myotonic dystrophy type 1.
 

Author(s): Erin Pennock Foff, Mani S Mahadevan

Journal: Muscle Nerve. 2011 Aug;44(2):160-9.

 

Myotonic dystrophy (DM1), the most common adult muscular dystrophy, is a multisystem, autosomal dominant genetic disorder caused by an expanded CTG repeat that leads to nuclear retention of a mutant RNA and subsequent RNA toxicity. Significant insights into the molecular mechanisms ...

Last Updated: 14 Jul 2011

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Observational Prolonged Trial in Myotonic Dystrophy Type 1
 

Status: Recruiting

Condition Summary: Myotonic Dystrophy Type 1

 

Last Updated: 22 May 2014

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Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type 1
 

Status: Recruiting

Condition Summary: Myotonic Dystrophy

 

Last Updated: 6 Aug 2014

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Variability of Molecular Biomarkers and Clinical Measures in People With Myotonic Dystrophy Type 1
 

Status: Recruiting

Condition Summary: Muscle Myopathies; Muscular Dystrophy; Inherited Neuromuscular Conditions

 

Last Updated: 24 Jun 2014

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