Myotonic dystrophy type 1

Common Name(s)

Myotonic dystrophy type 1, Steinert myotonic dystrophy syndrome, DM1

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.
 

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

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 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

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 1" returned 117 free, full-text research articles on human participants. First 3 results:

Ventricular fibrillation induced by coagulating mode bipolar electrocautery during pacemaker implantation in Myotonic Dystrophy type 1 patient.
 

Author(s): Vincenzo Russo, Anna Rago, Federica DI Meo, Nadia Della Cioppa, Andrea Antonio Papa, Maria Giovanna Russo, Gerardo Nigro

Journal: Acta Myol. 2014 Dec;33(3):149-51.

 

The occurrence of ventricular fibrillation, induced by bipolar electrocautery during elective dual chamber pacemaker implantation, is reported in a patient affected by Myotonic Distrophy type 1 with normal left ventricular ejection fraction.

Last Updated: 15 Apr 2015

Go To URL
The effect of atrial preference pacing on atrial fibrillation electrophysiological substrate in Myotonic Dystrophy type 1 population.
 

Author(s): Vincenzo Russo, Gerardo Nigro, Federica DI Meo, Andrea Antonio Papa, Nadia Della Cioppa, Riccardo Proietti, Maria Giovanna Russo, Raffaele Calabrò, Luisa Politano

Journal: Acta Myol. 2014 Dec;33(3):127-35.

 

P-wave dispersion is a non invasive indicator of intra-atrial conduction heterogeneity producing substrate for reentry, which is a pathophysiological mechanism of atrial fibrillation. The relationship between P-wave dispersion (PD) and atrial fibrillation (AF) in Myotonic dystrophy ...

Last Updated: 15 Apr 2015

Go To URL
Adenosine-induced sinus tachycardia in a patient with Myotonic Dystrophy type 1.
 

Author(s): Vincenzo Russo, Gerardo Nigro, Andrea Antonio Papa, Anna Rago, Nadia Della Cioppa, Anna Cristiano, Maria Giovanna Russo

Journal: Acta Myol. 2014 Oct;33(2):104-6.

 

We report the case of a 32-year-old man with Myotonic Dystrophy type 1 showing adenosine-induced sinus tachycardia during transesophageal electrophysiological evaluation.

Last Updated: 24 Feb 2015

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 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

Go To URL
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

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

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
Multicenter Observational Study of Myotonic Dystrophy Type 1
 

Status: Recruiting

Condition Summary: Myotonic Dystrophy Type 1

 

Last Updated: 4 Dec 2014

Go to URL
Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type 1
 

Status: Recruiting

Condition Summary: Myotonic Dystrophy

 

Last Updated: 10 Jul 2015

Go to URL