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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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 158 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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Responsiveness of performance-based outcome measures for mobility, balance, muscle strength and manual dexterity in adults with myotonic dystrophy type 1.
 

Author(s): Marie Kierkegaard, Émilie Petitclerc, Luc J Hébert, Jean Mathieu, Cynthia Gagnon

Journal: J Rehabil Med. 2018 Feb;50(3):269-277.

 

To assess changes and responsiveness in outcome measures of mobility, balance, muscle strength and manual dexterity in adults with myotonic dystrophy type 1.

Last Updated: 31 Dec 1969

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Brain gray matter structural network in myotonic dystrophy type 1.
 

Author(s): Atsuhiko Sugiyama, Daichi Sone, Noriko Sato, Yukio Kimura, Miho Ota, Norihide Maikusa, Tomoko Maekawa, Mikako Enokizono, Madoka Mori-Yoshimura, Yasushi Ohya, Satoshi Kuwabara, Hiroshi Matsuda

Journal:

 

This study aimed to investigate abnormalities in structural covariance network constructed from gray matter volume in myotonic dystrophy type 1 (DM1) patients by using graph theoretical analysis for further clarification of the underlying mechanisms of central nervous system involvement. ...

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: 12 Sep 2016

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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: 11 Aug 2017

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