Dm1 disease4/3/2023 ![]() There are now two types of myotonic Dystrophy recognized by the medical community. This can prevent the most severe from of the disease, the congenital form, from occurring. It is particularly important that female members of the family in childbearing years be tested with a DNA test to find out if they have the disease. As a general rule 50% of the children will inherent the disease. The disease has an effect called “anticipation” This means that the disease gets progressively worse with each generation. In the most severe congenital form the number of repeats is over 3,000. Myotonic Dystrophy is caused by an excessive number of CTG repeats on Chromosome 19. A “normal” number of Repeats is 5-38, Over 38 and myotonic dystrophy can occur. The late adult onset may have no symptoms or cataracts only. ![]() For example the congential form at birth will have the most severe symtoms including respiratory distress, mental retardation. Late Onset: Appears later after 40’s and generally mildĪs a general rule the earlier the disease is becomes known or can be detected the more severe the symptoms will be. Juvenile: Appears after birth and in teen yearsĪdult: Appears in the late 20’s to early 40’s The congenital and juvenile forms have different symptoms and may get better until puberty when the adult version will begin to occur as wellĬongenital: Appears at birth and is most severe (DM1 Only) The adult form is slowly progressive with the symptoms getting worse over time slowly. Myotonic Dystrophy is generally classified into two types, adult and non-adult. A more recent study by Campbell in Canada put the incidence of the congenital form at 1/47,000 That means that most doctors will not have a patient with the disease in their practice. Thus, many people are turning to organizations like the Myotonic Dystrophy Foundation for help and assistance. The incidence of the congenital form of myotonic dystrophy is much lower with an incidence of 1/100,000. In Africa and China the incidence is much lower. The incidence in Japan is approximately 1 in 20,000. Myotonic dystrophy is a rare disease with an incidence of about one in 8000 in European and North American Populations. You and your doctor should discuss these if you feel it warranted. ![]() However, more and more information is available and here at this site you will find all that is published. NO studies in humans have been completed and reported. NOTE: These potential treatments are just that potential. However, ketoprofen is no longer manufactured. => Phenylbutazone Ketoprofen Study in cells and mice pushes back disease in mice. => Actinomycin D study in cells and mice successfully pushes back disease in Mice => Erythromycin study in cells and mice successfully pushes back disease in Mice => Colchicine (Colcrys, Mitigare), Fall 2019 a study in mice and human cells => Furamidine Study in mice and cells with Erythromycin There have been some studies in mice or human cells of currently approved FDA drugs but no human studies. There are a few drugs that are in development to treat myotonic dystrophy with various approaches such as small molecules but not available now. Three off label uses have showed promise in mice studies but as yet there is no human data… In January of 2017 Ionis Pharmaceuticals stopped the trials of its DMPK-2.5Rx drug as it failed to show promise in the human trials. The other is a drug that is not FDA approved in the USA for human use. These are three approved Drugs by FDA and “off label use” may assist some people with DM1. Some people are just mildly affected others are severely affected. This makes it hard to tell you exactly how the disease will affect a particular person.įour treatments that have potential have now surfaced about Myotonic Dystrophy. Unlike most diseases, the symptoms that a person with this disease varies from person to person. One out of two children of a person with myotonic dystrophy will most likely have the disease. This site aggregates and publishes all information on Myotonic Dystrophy Myotonic Dystrophy is a disease that is genetically based and inherited from one generation to the next. You’ve reached this site as you may be the one of nearly one million people affected by Myotonic Dystrophy Worldwide. ![]() This is a diagram or the major effects of Myotonic Dystrophy on the Human. ![]()
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