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  1. 1. Student Biotech Expo 2008 COVER SHEET Title of Project: Myotonic Muscular Dystrophy      Student Name: Jake Allen and Chris Wayne      School: Ballard       High School Category:  Multimedia     Teacher Name:  Reimer     School Name: Ballard High School Grade Level: 12 Date: April 17th, 2008 I have special AV or electrical needs for my project: (Please describe your project AV/electrical needs. We will try to accommodate your request.) Page 1 of 12
  2. 2. Myotonic Muscular Dystrophy Jake Allen Ms. Reimer Genetics 4-17-08 Muscular dystrophy is a very crippling disease that affects nearly 50,000 Ameri- cans (Genetics Home Reference). There are eleven different versions of this genetic muta- tion that can cause minor disabilities as well as very severe ones including death. There Page 2 of 12
  3. 3. is no known cure for this disease other than to not allow it to be passed along from gen- eration to generation, through the use genetic counseling. Muscular dystrophy was first discovered in the early 1800’s by a Scottish anatomist by the name of Sir Charles Bell. In 1830 Sir Charles was writing an essay on an illness that he noticed was causing a progressive weakening of the muscles in boys. Then, six years later, a contemporary of his was studying two brothers that were both becoming very muscularly weak. The study revealed that these brothers’ muscles were being re- placed by fat and connective tissue which slowed the contraction of their muscles. Later that same year many scientists came to the conclusion that these symptoms were due to tuberculosis, not muscular dystrophy, which at that time left many ill citizens with a misdiagnoses. Then in the early 1850’s many more medical journals were noticing this progressive weakness of young boys, and 10 years later a doctor named Guillaume Duchenne was able to conclude that it was not tuberculosis and that it was another very deadly disease that had many different forms that effected both female and male pa- tients (Genetics Home Reference). Myotonic muscular dystrophy is one of the eleven types of muscular dystrophy that exists and is the most common form that is found to be in adults. Those with my- otonic muscular dystrophy (more commonly referred to as DM) tend to have muscle wasting and weakness in the hands, neck, face and lower leg. They also will experience myotonia, which is the inability for them to relax their muscles very quickly after con- tracting them. Other symptoms of DM include the clouding of the lens of the eye (more commonly known as cataracts), abnormal electrical signals that regulate the heartbeat, developmental delays, mental retardation, learning problems, language, speech and behavior problems, apathy, and in men it can cause balding and infertility. It is a very severe form of muscular dystrophy that is capable of very harsh symptoms (Kantor). Page 3 of 12
  4. 4. DM is a disease caused by a mutated gene during reproduction that can lead to one of two types of muscular dystrophy, DM1 and DM2. DM1 is a much harsher type of myotonic muscular dystrophy with many very debilitating symptoms. It is very commonly diagnosed at birth with symptoms such as club foot, breathing problems and hypotonia (weak muscle tone). DM2 tends to be much milder and is found in only two percent of the population. The specific genes that are mutated are the CNBP and DMPK genes. When CNBP is mutated it results in the less common DM2, while a mutation in the DMPK gene leaves one with DM1. The gene DMPK is thought to play a very important role in the communication of cells and is very important to the correct functioning of the heart, brain and muscles that are used for movement, while the CNBP gene is thought to help regulate the function of other genes (Genetics Home Reference). In both DM1 and DM2 the mutations are caused when a short segment of DNA is repeated more than 37 times, leaving an unstable region in the gene. This unstable part of the allele then leads to the production of an altered messenger RNA, which would normally be used for protein production. The mutated RNA clumps within the cell which then interferes with production of proteins within that cell. These slight changes within the cell keep it from functioning normally and lead to the many symptoms of myotonic dystrophy (Genetics Home Reference). Both DM1 and DM2 are inherited in an autosomal dominant pattern. This pattern means that only one copy of the altered gene, from either parent, is necessary to cause the disorder. In DM1 the trait occurs as a mutated protein on chromosome 19 and in DM2 a mutation of a different protein occurs on chromosome 3(National Institute of Neuro- logical Disorders and Strokes). Anticipation also usually occurs as the mutated gene is passed from generation to generation, meaning that the disorder begins occurring earli- er in life and more severe symptoms set in. During reproduction there is a 1:2 chance of passing on the altered gene to your children. Page 4 of 12
  5. 5. When the child does receive this mutated gene, its lifestyle is drastically changed. The child may begin life with severe medical complications and immediately be diagnosed with DM1, but there is also a possibility that the child appears very normal for several years later being diagnosed with DM2. Children with DM1 and DM2 are com- monly put into different schools or programs within their schools that help them through both schooling and their disease. School life is commonly very difficult for them because of their lack of strength. At home adjustments to the house need to be made to make it safe for that child to live there, hand rails need to be installed on the stairs and in the bathrooms and the house must be easy for the child to get around. Normal daily activi- ties become very strenuous and difficult to complete. Once out of school many jobs are unavailable to them and the jobs that they are able to obtain pay very little, which gives them no option other than to be cared for by someone else. Those more severely crip- pled by the disease commonly don’t leave the house and end up spending the rest of their life within their home, while the disease slowly deteriorates the function of their bodies. They tend to live a seemingly normal life, just with very little physical activity. Board games, watching TV, sewing, crosswords and card games are very much loved by these patients because they are able to succeed without having to expend much en- ergy. Though these patients have a great love for the lives they live, it is sad to know that there is not yet a cure (Wahl). While there is no cure at this point in time there are several ways to diagnose this disease. The first thing that is always checked by doctors is the patient’s family history and several other general questions that might give a clue to what is ailing the patient. If these questions do not give a clear enough answer, doctors are able to take blood and urine samples. With these samples they test to see whether or not the patient has ele- vated creatine kinase (an enzyme that is leaked by damaged muscle), they check the level of serum aldolase, and last they test myolobin levels that if high show signs of MD. Electron microscopy tests can also be issued, in which an electron microscope is used Page 5 of 12
  6. 6. to observe differences in cell death, mitochondria, and an increased level of connective tissue. Exercise tests can also be used to detect MD in patients by measuring the levels of specific chemicals that follow exercising. Numerous more tests exist including genetic testing, genetic counseling, MRI’s, muscle biopsies and several more methods (National Institute of Neurological Disorders and Strokes). . While there is no way to stop muscular dystrophy from getting worse throughout one’s life or any way of curing it, there are treatments that can temporarily slow the effects of the disease. DM patients can be administered several types of electromyograms which include phenytoin, carbamazepine, or quinine sulfate (National Institute of Neurological Disor- ders and Strokes). These drugs are able to make the myotonia reside for short periods of time and while they are still weak they gain more normal motor movement. Other than these three drugs patients are usually given supportive care through support groups set up by their local hospital or doctor’s office, as well as physiotherapy to help them live a somewhat normal daily life. For these patients it is very important that their limbs be stretched so that they avoid tightened tendons and muscles because they are very prone to this. It is also recommended that respiratory therapy be done by many patients, to loosen chest muscles and further prevent muscle tightening. Another very important precaution for those with DM is that they stick to an age appropriate diet that keeps them in shape. Frequently these diets consist of low calorie foods to keep as much weight off the patient as is healthy. Weight gain is a very serious issue because their al- ready weak muscles do not have the strength to support the extra strain of obesity and they are barely able, if at all, to participate in physical activities that would allow them to stay in shape. This puts DM patients at a very high risk of obesity, which puts them in danger of other symptoms (National Institute of Neurological Disorders and Strokes). Also com- mon amongst myotonic dystrophy patients are caretakers, they help with daily chores, such as laundry, cooking and cleaning and are there for the patients to help them Page 6 of 12
  7. 7. through their daily lives. They are a very important part of their lives because it gives them a constant companion to be around and one who is also able to help them with anything that they may need. DM is the most common type of dystrophy in adults. It affects about 1 in every 8,000 people worldwide and about 50,000 people within the United States. About 98% of all myotonic cases are DM1 the other 2% being DM2 (Genetics home reference). These percentages are not for all ethnicities though, in some cultures DM2 might be just as likely to occur as DM1, in others DM2 might even be more common than DM1. All in all, scientists have made amazing progress in the last 180 years. Myotonic dystrophy has dropped substantially in the last 40 years alone. Scientists have been able to advise doctors on what patients need and have also been able to help genetic counselors slow and nearly stop the spread of the disease from one affected generation to the next. With many new techniques and better ways of treatment success should continue in the field of muscular dystrophy leaving future generations to ask, what was muscular dystrophy? Page 7 of 12
  8. 8. Annotated Bibliography: Adams, C.. "Diagnosis and Management of Myotonic Dystrophy." NueroCAST. 28 Sep 2007. 14 Nov 2007 <>. This website was very useful. It allowed me to get a lot of specific information on the management of those with myotonic muscular dystrophy and I was also able to get to really good pictures from this page. Clark, Allissa. "Muscular Dystrophy." Teens Health. Jan 2007. Teens Health. 3 Nov 2007 <http://www.kid->. This website was also a great beginning web page because it listed all the different types of the disease and a ton of general information about them. It was an easy way to get a general understanding of what the disease does and then go on from there. Kantor, Daniel. "Muscular Dystrophy." Medline Plus. 10 Sep 2006. 23 Oct 2007 < medlineplus/ency/article/001190.htm>. This web page had a lot of good general information. It was a good web page to start on because it gave me a really good general understanding of the disease and led me to other great websites with much more specific information. Kirmse, Brian. "Muscular Dystrophy." Medline Plus. 11 Aug 2006. Medline Plus. .29 Nov 2007 <>. This website was able to give me much more specific details about myotonic muscular dystrophy, which included likelihood of passing the trait, symptoms, and ways to test for the disease. "Muscular Dystrophy: Hope Through Research." National Institute of Neurological Disorders and Strokes. Nov 2007. National Institute of Neurological Disorders and Strokes. 11 Nov 2007 <http://www.ninds.nih.- gov/disorders/md/detail_md.htm>. This website gave me great information on how one is tested for muscular dystrophy. It was very specific in how it described each test and it listed many different types of tests. muscular dystrophy. Hutchinson Unabridged Encyclopedia. Helicon Publishing. 2005. eLibrary. Proquest CSA. 29 Nov 2007. <>. This encyclopedia was just another great source for more general information. It allowed me to further my understanding of the disease and it also gave me great statistics on how common the disease actually oc- curs. "Muscular Dystrophy; Gene therapy technique shows promise." Drug Week. 14 Nov 2003. 269. eLibrary. Proquest CSA. 29 Nov 2007. <>. This article was a very cool article. After reading many sites saying that muscular dystrophy has no cure and it doesn’t look like there is one coming, it was nice to see an article that shows a hope that there actu- ally is a possibility of a cure out there. "Myotonic Dystrophy." Genetics Home Reference. Nov 2006. US National Library of Medicine. 21 Nov 2007 <>. This was the web page that I used by far the most. It had great information that ranged to nearly all topics that I was looking to discuss in this essay. It was very detailed and gave me a very good understanding of all the specifics of the disease. Page 8 of 12
  9. 9. Wahl, Margaret. "What Not to Eat." Quest Nov 2007: 42-47. This magazine article was a great article. It really helped me understand how critical the proper diet is for someone with muscular dystrophy. It talked about all different sorts of foods that are good and bad, and gave me a better understanding of what diet one with muscular dystrophy actually needs. Pictures: We got all of our pictures from google image searches and here are the specific websites. research/research.html motiongraphics/ 2007_03_01_archi… Jake Allen 3-26-08 Biotech Expo- Effort in Use of Resources This particular area of the expo project has been somewhat of a struggle for me and my partner. We have had a difficult time with our advisor and it has caused us to slightly change the idea of our project. At first we thought that everything would go really smoothly we met with our advisor and he was very helpful. He said that he would be Page 9 of 12
  10. 10. able to get us into his lab and that we would be able to interview one of his colleagues that was an expert on myotonic muscular dystrophy. After that first meeting communica- tion with our advisor was very poor and we ended up not being able to get into the lab to interview his colleague which was a blow to our project. We then changed our project slightly and were able to come up with an idea that didn’t require us to interview his col- league. Most the resources that we have used have been very informational websites. We made very sure to pick trusted websites and not to just use a google search. We have websites such as Medline, the National Institute of Neurological Disorders and Strokes and we were also able to glean some very good information from the Nuero- Cast website. As for actually putting our presentation together we don’t really need any re- sources because we are able to put the entire project together on iMovie 08’. Both my partner and I have used it before and didn’t need any help with the editing portion of the project. Jake Allen 3-24-08 Biotech Expo- Artist Statement My inspiration for this project came from my aunt who suffers from myotonic muscular dystrophy. Several years ago I was really able to experience first hand the daily struggles of her life while she lived with us for three years. Every day I watched her struggle with things that I had taken for granted for years, she was unable to shower by herself, unable to walk and unable to live a life on independence. I really didn’t think a whole lot of her condition until I took genetics and realized the what she was actually dealing with. Little had I known at the time but I was witness to the effects of a horrible and life crippling disease known as myotonic muscular dystrophy. Page 10 of 12
  11. 11. Earlier this year I learned about the Biotech Student Expo and I felt that it was an appropriate time to try to spread awareness of my aunts crippling disease. I felt that I re- ally wanted to convey the severity of the disease and be able to give those who didn’t know much about the disease a pretty good background of the disease and a chance to look into the life of someone who lives with myotonic muscular dystrophy. I felt like the best way to portray what I wanted to was to make a multimedia presentation that touched those who watched it. Making this presentation though would require one other person than just myself. I needed to find someone with more experience in the multimedia field than I had and I was lucky enough to find someone who fit this perfectly in my class. I am able to edit ev- erything together but I needed someone who could do the camera work and also help me to mold my idea into a well put together multimedia presentation. Page 11 of 12