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.
 

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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 162 free, full-text research articles on human participants. First 3 results:

Five-year serial follow-up of muscle MRI in adult onset myotonic dystrophy type 1: A case report.
 

Author(s): Jin-Sung Park, Donghwi Park

Journal: Medicine (Baltimore). 2018 Jan;97(4):e9379.

 

Although several studies have described the involvement pattern of myotonic dystrophy type 1 (DM1) using muscle MRI, most of these studies have limitations as cross-sectional studies. To the best of our knowledge, there have been no reports of longitudinal studies describing muscle ...

Last Updated: 31 Dec 1969

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Preimplantation Genetic Diagnosis for Myotonic Dystrophy Type 1 and Analysis of the Effect of the Disease on the Reproductive Outcome of the Affected Female Patients.
 

Author(s): Raquel María Fernández, María Dolores Lozano-Arana, Beatriz Sánchez, Ana Peciña, Juan Carlos García-Lozano, Salud Borrego, Guillermo Antiñolo

Journal: Biomed Res Int. 2017 ;2017():9165363.

 

Myotonic dystrophy type 1 (DM1) is the most common adult muscular dystrophy and presents an autosomal dominant inheritance. A reproductive option for the families affected is preimplantation genetic diagnosis (PGD). One limitation of this option is the nonoptimal response to ovarian ...

Last Updated: 31 Dec 1969

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Design of a "Mini" Nucleic Acid Probe for Cooperative Binding of an RNA-Repeated Transcript Associated with Myotonic Dystrophy Type 1.
 

Author(s): Wei-Che Hsieh, Raman Bahal, Shivaji A Thadke, Kirti Bhatt, Krzysztof Sobczak, Charles Thornton, Danith H Ly

Journal: Biochemistry. 2018 02;57(6):907-911.

 

Toxic RNAs containing expanded trinucleotide repeats are the cause of many neuromuscular disorders, one being myotonic dystrophy type 1 (DM1). DM1 is triggered by CTG-repeat expansion in the 3'-untranslated region of the DMPK gene, resulting in a toxic gain of RNA function through ...

Last Updated: 31 Dec 1969

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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 3 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: 31 Dec 1969

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Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1.
 

Author(s): Marie Douniol, Aurélia Jacquette, David Cohen, Nicolas Bodeau, Linda Rachidi, Nathalie Angeard, Jean-Marie Cuisset, Louis Vallée, Bruno Eymard, Monique Plaza, Delphine Héron, Jean-Marc Guilé

Journal: Dev Med Child Neurol. 2012 Oct;54(10):905-11.

 

To investigate the psychiatric and cognitive phenotype in young individuals with the childhood form of myotonic dystrophy type 1 (DM1).

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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Symptoms, Diagnosis, and Treatment

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Venous Thromboembolism in Myotonic Dystrophy Type 1
 

Status: Not yet recruiting

Condition Summary: Myotonic Dystrophy 1

 

Last Updated: 13 Mar 2018

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Ventilatory Response After Non Invasive Ventilation in Type 1 Myotonic Dystrophy
 

Status: Recruiting

Condition Summary: Myotonic Dystrophy 1; Steinert Disease

 

Last Updated: 9 Jul 2018

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Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry
 

Status: Recruiting

Condition Summary: Myotonic Dystrophy; Facioscapulohumeral Muscular Dystrophy; Muscular Dystrophy; Myotonic Dystrophy Type 1; Myotonic Dystrophy Type 2; Congenital Myotonic Dystrophy; PROMM (Proximal Myotonic Myopathy); Steinert's Disease; Myotonic Muscular Dystrophy

 

Last Updated: 3 Oct 2018

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