Congenital Myotonic Dystrophy

Common Name(s)

Congenital Myotonic Dystrophy

Congenital myotonic dystrophy is an inherited condition of the muscles that is present at birth (congenital). Because myotonic dystrophy is a progressive (worsening over time) condition that often does not present until adulthood, the parent may not know they have the condition before giving birth to their child. When myotonic dystrophy is present at birth it is often more severe.

Symptoms of congenital myotonic dystrophy may include respiratory problems that improve after the first month of life, low muscle tone (hypotonia), clubfoot, and poor head control and facial weakness. Later in childhood, the symptoms may include lack of concentration, motivation, or energy; delayed motor and intellectual milestones; and delayed bladder and bowel control.

Diagnosis may be made before the baby is born during an ultrasound or through family history, if the parental diagnosis is known. Diagnosis may also be made after birth. There is currently no cure, but treatment and management of the symptoms may help. Though this condition can be life threatening early on, babies who survive until their first birthday, often live to adulthood. Physical therapy may improve muscle tone and improve the child's motor development. Motor aids such as canes, crutches, and walkers may also be necessary.

Congenital myotonic dystrophy is inherited in an autosomal dominant manner. This means that only one copy of the gene causing this condition is changed (or carries a mutation). Each child of an affected individual has a 50% chance of also inheriting the condition. Congenial myotonic dystrophy also shows anticipation which means that as it is passed to the next generation, symptoms often start early and are often more severe. A genetic counselor can provide a better understanding of the genetics and recurrence risks. If your child has been diagnosed with congenital myotonic dystrophy, talk with your doctor about the most current treatment options.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital Myotonic Dystrophy" for support, advocacy or research.

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Muscular Dystrophy Association

MDA is the nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research. The Association also provides comprehensive health care and support services, advocacy and education.

Last Updated: 15 Jul 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital Myotonic Dystrophy" for support, advocacy or research.

Logo
Muscular Dystrophy Association

MDA is the nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research. The Association also provides comprehensive health care and support services, advocacy and education.

http://www.mdausa.org

Last Updated: 15 Jul 2015

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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 "Congenital Myotonic Dystrophy" returned 28 free, full-text research articles on human participants. First 3 results:

Transient complete atrioventricular block in a preterm neonate with congenital myotonic dystrophy: case report.
 

Author(s): Hee Na Kim, Young Kuk Cho, Joo Hyun Cho, Eun Mi Yang, Eun Song Song, Young Youn Choi

Journal: J. Korean Med. Sci.. 2014 Jun;29(6):879-83.

 

Congenital myotonic dystrophy (CMD) is an inherited neuromuscular disorder with cardiac rhythm abnormalities that may occur as a child grows. No report has described complete atrioventricular (AV) block detected in a neonate with CMD. We report a floppy infant of 31(+4) weeks gestation ...

Last Updated: 16 Jun 2014

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[Congenital myotonic dystrophy in a Neonatal Intensive Care Unit: case series].
 

Author(s): Sara Domingues, Clara Alves Pereira, Angela Machado, Sandra Pereira, Leonilde Machado, Carla Fraga, Abílio Oliveira, Isabel Vale, Ilídio Quelhas

Journal: Arch Argent Pediatr. 2014 Feb;112(1):e18-22.

 

Steinert myotonic dystrophy is a multisystemic disease, autosomal dominant, with a wide spectrum of severity and clinical manifestations. The most severe form is one that manifests in the neonatal period, called congenital myotonic dystrophy. This condition is distinguished by overall ...

Last Updated: 25 Feb 2014

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A case report on 30-week premature twin babies with congenital myotonic dystrophy conceived by in vitro fertilization.
 

Author(s): Su Bin Son, Jung Mi Chun, Kyung Ah Kim, Sun Young Ko, Yeon Kyung Lee, Son Moon Shin

Journal: J. Korean Med. Sci.. 2012 Oct;27(10):1269-72.

 

Congenital myotonic dystrophy type 1 (DM1) presents severe generalized weakness, hypotonia, and respiratory compromise after delivery with high mortality and poor prognosis. We presented a congenital DM1 of premature twins in the 30th week of gestation. These twins were conceived ...

Last Updated: 23 Oct 2012

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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 "Congenital Myotonic Dystrophy" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Myotonic Dystrophy Family Registry
 

Status: Recruiting

Condition Summary: Myotonic Dystrophy; Congenital Myotonic Dystrophy; Myotonic Dystrophy 1; Myotonic Dystrophy 2; Dystrophia Myotonica; Dystrophia Myotonica 1; Dystrophia Myotonica 2; Myotonia Dystrophica; Myotonic Dystrophy, Congenital; Myotonic Myopathy, Proximal; PROMM (Proximal Myotonic Myopathy); Proximal Myotonic Myopathy; Steinert Disease; Steinert Myotonic Dystrophy; Steinert's Disease; Myotonia Atrophica

 

Last Updated: 24 Mar 2015

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Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry
 

Status: Recruiting

Condition Summary: Myotonic Dystrophy; Muscular Dystrophy, Facioscapulohumeral; Muscular Dystrophy

 

Last Updated: 6 Apr 2015

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Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type 1
 

Status: Recruiting

Condition Summary: Myotonic Dystrophy

 

Last Updated: 10 Jul 2015

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