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.

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

Atrial electromechanical delay in myotonic dystrophy type 1 patients.
 

Author(s): V Russo, F Di Meo, A Rago, G Nigro

Journal: Eur Rev Med Pharmacol Sci. 2015 Nov;19(21):3991-2.

 

Last Updated: 23 Nov 2015

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Prevalence and correlates of apathy in myotonic dystrophy type 1.
 

Author(s): Benjamin Gallais, Michèle Montreuil, Marcela Gargiulo, Bruno Eymard, Cynthia Gagnon, Luc Laberge

Journal:

 

Apathy in DM1 has long been acknowledged in clinical practice. However, a major drawback is that the concept has been only sparsely explored in previous specific studies. This study aimed to determine the prevalence of apathy in myotonic dystrophy (DM1), to compare it with facioscapulohumeral ...

Last Updated: 22 Aug 2015

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How genetics affects the brain to produce higher-level dysfunctions in myotonic dystrophy type 1.
 

Author(s): Laura Serra, Antonio Petrucci, Barbara Spanò, Mario Torso, Giusy Olivito, Ludovico Lispi, Sandro Costanzi-Porrini, Giovanni Giulietti, Giacomo Koch, Manlio Giacanelli, Carlo Caltagirone, Mara Cercignani, Marco Bozzali

Journal: Funct. Neurol.. ;30(1):21-31.

 

Myotonic dystrophy type 1 (DM1) is a multisystemic disorder dominated by muscular impairment and brain dysfunctions. Although brain damage has previously been demonstrated in DM1, its associations with the genetics and clinical/neuropsychological features of the disease are controversial. ...

Last Updated: 28 Jul 2015

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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: 15 Apr 2013

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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: 11 Sep 2012

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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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Symptoms, Diagnosis, and Treatment

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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: 8 Jan 2016

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Multicenter Observational Study of Myotonic Dystrophy Type 1
 

Status: Recruiting

Condition Summary: Myotonic Dystrophy Type 1

 

Last Updated: 15 Sep 2015

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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: 21 Jan 2016

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