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

Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA).
 

Author(s): Giovanni DiPaolo, Cecilia Jimenez-Moreno, Nikoletta Nikolenko, Antonio Atalaia, Darren G Monckton, Michela Guglieri, Hanns Lochmüller

Journal: J. Neurol.. 2017 Apr;264(4):701-708.

 

Myotonic dystrophy type 1 (DM1) is not characterised by ataxia per se; however, DM1 and ataxia patients show similar disturbances in movement coordination often experiencing walking and balance difficulties, although caused by different underlying pathologies. This study aims to investigate ...

Last Updated: 7 Feb 2017

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CRISPR/Cas9-Induced (CTG⋅CAG)n Repeat Instability in the Myotonic Dystrophy Type 1 Locus: Implications for Therapeutic Genome Editing.
 

Author(s): Ellen L van Agtmaal, Laurène M André, Marieke Willemse, Sarah A Cumming, Ingeborg D G van Kessel, Walther J A A van den Broek, Geneviève Gourdon, Denis Furling, Vincent Mouly, Darren G Monckton, Derick G Wansink, Bé Wieringa

Journal: Mol. Ther.. 2017 Jan;25(1):24-43.

 

Myotonic dystrophy type 1 (DM1) is caused by (CTG⋅CAG)n-repeat expansion within the DMPK gene and thought to be mediated by a toxic RNA gain of function. Current attempts to develop therapy for this disease mainly aim at destroying or blocking abnormal properties of mutant DMPK ...

Last Updated: 27 Jan 2017

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In myotonic dystrophy type 1 reduced FDG-uptake on FDG-PET is most severe in Brodmann area 8.
 

Author(s): Dimitri Renard, Laurent Collombier, Christel Castelli, Jean-Pierre Pouget, Pierre-Olivier Kotzki, Vincent Boudousq

Journal:

 

In myotonic dystrophy type 1 (DM1), only one FDG-PET study used statistical parametric mapping (SPM) showing frontal reduced FDG-uptake. Our aim was to 1) identify the FDG-PET area with the most severe reduced FDG-uptake using SPM8 in a larger group of patients 2) assess potential ...

Last Updated: 14 Jul 2016

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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

PhenoDM1 (Myotonic Dystrophy Type 1 Natural History Study)
 

Status: Recruiting

Condition Summary: Myotonic Dystrophy Type 1

 

Last Updated: 29 Mar 2017

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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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Study of Ranolazine in Myotonia Congenita, Paramyotonia Congenita and Myotonic Dystrophy Type 1
 

Status: Recruiting

Condition Summary: Myotonia Congenita (Enrollment Complete); Paramyotonia Congenita; Myotonic Dystrophy 1

 

Last Updated: 18 Mar 2017

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