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Friday, February 10, 2012
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NetWellness provides the highest quality health information and education services created and evaluated by faculty of our partner universities.
Friday, February 10, 2012
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Inherited Disorders and Birth Defects |
Myotonic Dystrophy04/27/2000 |
Many people in my family have Myotonic Dystrophy. I would like to here about the new research available. Is there any hope for this disease? I have heard that there is a recent article about a new found cure at the University of Cincinnati, is that true? Thank you, Sincerely Concerned
As you may know, myotonic dystrophy (DM) affects multiple body systems including skeletal muscle and smooth muscle, as well as the eye, heart, endocrine system, and central nervous system. Symptoms can be from mild to severe. DM is often put into 3 categories: mild, classical, and congenital. Mild DM usually has cataracts and mild myotonia (difficulty relaxing the muscles after contraction) and life span is normal. Classical DM has muscle weakness and wasting (loss of muscle), myotonia, cataracts, and often cardiac conduction problems (problems with the electrical system of the heart). Adults with classical DM may become physically disabled and may have a shortened life span. Congenital DM has hypotonia (decreased muscle tone) and severe generalized weakness at birth. These infants often have respiratory problems and may die young. Also they may have mental retardation.Myotonic dystrophy is due to a genetic alteration in the myotonin protein kinase gene (DMPK) located on chromosome 19. This abnormality in the DMPK gene results in what is called an expansion of the CTG trinucleotide repeat. If the CTG repeat length becomes larger than 37 repeats, it is abnormal. Gene testing is available.
DM is inherited in an autosomal dominant manner. Since our chromosomes come in pairs, we have two copies of the myotonin protein kinase gene. A person with DM has a genetic change or alteration in one of their two copies of this gene. Only one copy of the gene with the genetic alteration is necessary to cause DM. Any person with the gene for DM has a 50% chance of passing the gene on to any of their children. If the child inherits the gene for DM they will be affected. Also, because of the type of gene abnormality that DM is caused by - a trinucleotide repeat - the repeat may expand in length during formation of eggs and sperm which can then result in passing on a longer trinucleotide repeat sequence which in turn may be associated with an earlier onset and more severe disease than that of the parent.
There are no specific treatments currently available for individuals with DM. I am not aware of research at the University of Cincinnati regarding a "cure" for DM. As researchers begin to understand more about the gene abnormality and gain a better understanding of how this affects different body systems, it is hoped that this will lead to specific treatments for its symptoms. Medications are available that your doctor can prescribe to reduce myotonia, especially if it interferes with daily activities. Physical therapy and occupational therapy, as well as regular exercise may help minimize the progression of muscle weakness. Ankle and leg braces may help support these muscles.
There is a great deal of on-going research. The Muscular Dystrophy Association has an excellent website below that provides a great deal of information and lists some of the current research for DM. They also have an "Ask an Expert" site. They may be able to provide you with additional information. Also, if you have not already done so, I would recommend you talk to a geneticist or genetic counselor to discuss all the current information and testing available. You can find a genetics center near you by contacting the National Society of Genetic Counselors resource website below.
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Anne Matthews, RN, PhD Associate Professor of Genetics Department of Genetics School of Medicine Case Western Reserve University |
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Please note: only your personal physician or other health professional you consult can best advise you on matters of your health based on your medical history, your family medical history, your medication history, and how information from any of these databases may apply to you. Neither University of Cincinnati (NetWellness) nor any party involved in creating, producing or delivering this web site shall be liable for any damages arising out of access to or use of this web site, or any errors or omissions in the content thereof. (More) 
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