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.

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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 1" returned 84 free, full-text research articles on human participants. First 3 results:

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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Does a high percentage of right ventricular pacing influence the incidence of paroxysmal atrial fibrillation in myotonic dystrophy type 1 patients?
 

Author(s): Vincenzo Russo, Anna Rago, Andrea Antonio Papa, Luisa Politano, Paolo Golino, Maria Giovanna Russo, Raffaele Calabrò, Gerardo Nigro

Journal: Kardiol Pol. 2013 ;71(11):1147-53.

 

Paroxysmal atrial tachyarrhythmias occur frequently in myotonic dystrophy type 1 (MD1) patients. Pacemakers, implanted for the treatment of bradyarrhythmias and including detailed diagnostic functions, may facilitate the diagnosis and management of frequent paroxysmal atrial fibrillation ...

Last Updated: 3 Dec 2013

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Reexpression of pyruvate kinase M2 in type 1 myofibers correlates with altered glucose metabolism in myotonic dystrophy.
 

Author(s): Zhihua Gao, Thomas A Cooper

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2013 Aug;110(33):13570-5.

 

Myotonic dystrophy type 1 (DM1) is caused by expansion of CTG repeats in the 3' UTR of the DMPK gene. Expression of CUG expansion (CUG(exp)) RNA produces a toxic gain of function by disrupting the functions of RNA splicing factors, such as MBNL1 and CELF1, leading to splicing changes ...

Last Updated: 14 Aug 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

Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type 1
 

Status: Recruiting

Condition Summary: Myotonic Dystrophy

 

Last Updated: 26 Feb 2014

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Lamotrigine as Treatment of Myotonia
 

Status: Recruiting

Condition Summary: Dystrophia Myotonica Type 1; Myotonia Congenita; Paramyotonia Congenita; Hyperkalemic Periodic Paralysis; Potassium-Aggravated Myotonia

 

Last Updated: 11 Nov 2013

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RAMYD Study - Evaluation of Arrhythmic Risk in Myotonic Dystrophy
 

Status: Recruiting

Condition Summary: Myotonic Dystrophy; Sudden Cardiac Death

 

Last Updated: 24 Aug 2005

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