Learn About Myotonic Dystrophy

What is the definition of Myotonic Dystrophy?

Myotonic dystrophy is part of a group of inherited disorders called muscular dystrophies. It is the most common form of muscular dystrophy that begins in adulthood.

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What are the causes of Myotonic Dystrophy?

Myotonic dystrophy type 1 is caused by mutations in the DMPK gene, while type 2 results from mutations in the CNBP gene. The protein produced from the DMPK gene likely plays a role in communication within cells. It appears to be important for the correct functioning of cells in the heart, brain, and skeletal muscles (which are used for movement). The protein produced from the CNBP gene is found primarily in the heart and in skeletal muscles, where it helps regulate the function of other genes.

How prevalent is Myotonic Dystrophy?

Myotonic dystrophy affects at least 1 in 8,000 people worldwide. The prevalence of the two types of myotonic dystrophy varies among different geographic and ethnic populations. In most populations, type 1 appears to be more common than type 2. However, recent studies suggest that type 2 may be as common as type 1 among people in Germany and Finland.

Is Myotonic Dystrophy an inherited disorder?

Both types of myotonic dystrophy are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.

Who are the top Myotonic Dystrophy Local Doctors?
Elite
Highly rated in
37
conditions
Neurology
Pediatrics

VCU Health

Neuroscience, Orthopaedic And Wellness Center (NOW Center)

11958 W Broad St 
Henrico, VA 23233

Nicholas Johnson is a Neurologist and a Pediatrics doctor in Henrico, Virginia. Dr. Johnson has been practicing medicine for over 15 years and is rated as an Elite doctor by MediFind in the treatment of Myotonic Dystrophy. He is also highly rated in 37 other conditions, according to our data. His top areas of expertise are Paramyotonia Congenita, Myotonic Dystrophy Type 2, Myotonic Dystrophy, and Myotonia Congenita. He is licensed to treat patients in Utah. Dr. Johnson is currently accepting new patients.

Elite
Highly rated in
7
conditions
Neurology

Mass General Brigham

Partners TeleStroke Center

15 Parkman St 
Boston, MA 2114

Thurman Wheeler is a Neurologist in Boston, Massachusetts. Dr. Wheeler has been practicing medicine for over 27 years and is rated as an Elite doctor by MediFind in the treatment of Myotonic Dystrophy. He is also highly rated in 7 other conditions, according to our data. His top areas of expertise are Myotonic Dystrophy, Myotonic Dystrophy Type 2, Paramyotonia Congenita, and Becker Muscular Dystrophy. He is licensed to treat patients in New York. Dr. Wheeler is currently accepting new patients.

 
 
 
 
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Elite
Highly rated in
13
conditions
Neurology

University of Rochester Medical Center

Strong Memorial Hospital

601 Elmwood Ave 
Rochester, NY 14642

Charles Thornton is a Neurologist in Rochester, New York. Dr. Thornton has been practicing medicine for over 41 years and is rated as an Elite doctor by MediFind in the treatment of Myotonic Dystrophy. He is also highly rated in 13 other conditions, according to our data. His top areas of expertise are Myotonic Dystrophy, Myotonic Dystrophy Type 2, Paramyotonia Congenita, and Amyotonia Congenita. He is licensed to treat patients in New York. Dr. Thornton is currently accepting new patients.

What are the latest Myotonic Dystrophy Clinical Trials?
Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias (Long QT Syndrome, Brugada Syndrome, CPVT and Early Repolarization Syndrome)
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Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1)
Who are the sources who wrote this article ?

Published Date:updated Last, July

Published By: National Institutes of Health

What are the Latest Advances for Myotonic Dystrophy?
Temporary positive expiratory pressure (TPEP) as an alternative approach in the treatment of persistent atelectasis in a patient with Steinert disease: a case report.
Molecular and Clinical Implications of Variant Repeats in Myotonic Dystrophy Type 1.
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Possibilities and challenges of small molecule organic compounds for the treatment of repeat diseases.