Josh Yu

SBI 3U1

02/23/2012

Myotonic Dystrophy
Myotonic Dystrophy, or Dystrophia Myotonica (DM), is a rare genetic disorder that affects 1 out of 8,000 people worldwide. DM usually occurs in the beginning of adulthood and can be distinguished in the affected patient by progressive muscle weakness or prolonged muscle contractions that eventually lead to the inability to relax certain muscles. DM comes in two major types: type 1 (DM1) and type 2 (DM2). DM is caused by the mutation of the dystrophia myotonica-protein kinase (DMPK) gene on chromosome 19 (for DM1) or the CCHCtype zinc finger, nucleic acid binding protein (CNBP) gene on chromosome 3 (for DM2) 1. DM1 is caused when chromosome 19 is mutated by the abnormal repetition of the DNA in a CTG sequence. DM2 is caused similarly where chromosome 3 is mutated and abnormally repeats the DNA in a CCTG sequence. Normally, there are only 5 to 30 repeats of these CTG/CCTG sequences, but those with DM will have dozens or hundreds of these repeats. The problem caused by these repeats is that it decreases the amount of protein made by the body as the messages sent by the DMPK and CNBP gene are unable to tell the cell how to make protein. As a result, cells in other tissues and muscles cells are unable to function normally without the proper proteins, which lead to the signs and symptoms of DM 2. Signs and symptoms of Myotonic Dystrophy3: Delayed muscle relaxation after contraction Impaired nourishment of non-muscular tissue Weaknesses in the facial muscles, arms and legs, and muscles affecting speech and swallowing Baldness in men and women Intellectual impairment Respiratory problems Heart abnormalities in early adulthood DM is a progressive disorder meaning that the symptoms generally worsen over time. Symptoms can start appearing at various ages and the severity of symptoms experienced can vary greatly4.

"Myotonic dystrophy - Genetics Home Reference." Genetics Home Reference - Your guide to understanding genetic conditions. N.p., n.d. Web. 23 Feb. 2012. <http://ghr.nlm.nih.gov/condition/myotonic-dystrophy>. 2 "Myotonic Dystrophy > Neurology | Yale School of Medicine." Home > Yale School of Medicine | Yale University. N.p., n.d. Web. 1 Mar. 2012. <http://medicine.yale.edu/neurology/div 3 "Muscular dystrophy." University of Maryland Medical Center | Home. N.p., n.d. Web. 23 Feb. 2012. <http://www.umm.edu/altmed/articles/muscular-dystrophy-000113.htm>.

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SBI 3U1

02/23/2012

The most common diagnostic process of DM begins by clinically examining the patient for the signs and symptoms of this disorder. If these signs show, the patient undergoes a series of medical tests and is confirmed either positive or negative for DM through genetic testing5. Unfortunately, since there is currently no obvious cure for DM, doctors are left to treat their patients for the symptoms of DM to help ease their pain. For example, patients may be given canes to assist them with their walking as their muscles are usually quite weak due to the lack of protein production. Ankle and wrist braces may also be provided to stabilize their joints and prevent further aggregation of their muscles6. Other than the physical aids that doctors can provide patients, anticonvulsant drugs such as phenytoin, quinine, and procainamide can be given to treat delayed muscle relaxation in severe cases of DM. Some side effects of these drugs include constipation, mild nausea or vomiting, mild dizziness, drowsiness, or lightheadedness. None of these side effects are serious and will go away as soon as the body gets used to the drug7. Luckily, DM is not contagious and can only be inherited from ones parents. On the flipside, DM is an autosomal dominant gene, which means that only one copy of this mutated gene is enough to bring about DM in the offspring of future generations. As a result, couples with a known history of DM in their families may want to think twice before starting a family of their own to prevent their offspring from having DM8. Couples willing to take this risk should be prepared to possibly have a child who will have extreme difficulty making it through life and who will require constant medical attention when the signs and symptoms of DM appear, which can be at any age. It is plain to see that DM can ruin the childhood of a child if the signs and symptoms appear early on in his/her life. DM will cause children to be unable to participate in sports and various school activities that involve physical activity. These children are more susceptible to become victims of bullying because they are unable to have the normal lifestyle of every other
4

"Symptoms of Myotonic Dystrophy - Myotonic Dystrophy Foundation."Myotonic Dystrophy Foundation Home Page - Myotonic Dystrophy Foundation. N.p., n.d. Web. 1 Mar. 2012. <http://www.myotonic.org/medical-information/about-the-disorder/symptoms/>. 5 "Diagnosis of Myotonic Dystrophy - Myotonic Dystrophy Foundation."Myotonic Dystrophy Foundation Home Page - Myotonic Dystrophy Foundation. N.p., n.d. Web. 23 Feb. 2012. <http://www.myotonic.org/medical-information/about-the-disorder/diagnosis/>. 6 "Myotonic Dystrophy - Treatment | Medindia." Medindia - Medical/Health Website. N.p., n.d. Web. 29 Feb. 2012. <http://www.medindia.net/patients/patie 7 "Anticonvulsant Drugs - definition of Anticonvulsant Drugs in the Medical dictionary - by the Free Online Medical Dictionary, Thesaurus and Encyclopedia.." Medical Dictionary. N.p., n.d. Web. 1 Mar. 2012. <http://medical-dictionary.thefreedictionary.com/Anticonvulsan 8 "Myotonic dystrophy - Genetics Home Reference." Genetics Home Reference - Your guide to understanding genetic conditions. N.p., n.d. Web. 1 Mar. 2012. <http://ghr.nlm.nih.gov/condition/myotonicdystrophy#diagnosis>.

Josh Yu

SBI 3U1

02/23/2012

kid. In a worst case scenario, the life that is already extremely difficult for a child with DM becomes even harder due to the bullying and teasing from other children9. If a couple do decide to take this risk and try for a baby, they should be making financial plans to help support their child along his/her lifes path. Firstly, those affected by DM will have an incredibly hard time looking for work because their body simply cannot handle most forms of physical or mental labour. Secondly, accessible and affordable housing is hard to come by as the DM patient will likely need a wheelchair, which requires ramps and electrical lifts to get around the house. These extra electrical aids in the house will greatly increase the household electricity bill. Thirdly, the overall healthcare of the DM patient will cost the family a lot of money to pay for treatment, medication and insurance premiums10. Luckily, one of the governments answers to these problems is called the disability tax credit (DTC), which helps supplement the increased cost of living with a disability by sending financial aid to the affected family11. Since DM is an autosomal dominant gene, there is no way to truly be a carrier of the disorder as the signs and symptoms would eventually develop and show. Every child born to one parent with DM has a 50% chance of obtaining this hereditary disorder, a 75% chance if both parents are heterozygous for DM, and a 100% chance if two people who are homozygous for DM decide to give birth to a baby. With this being said, being a carrier of DM is the same as having the disorder itself because it is impossible for a dominant gene to not show over a recessive gene in humans. In the case of DM, a carrier is just a term used to describe patients who have not developed the signs and symptoms of DM yet12. Another risk that DM patients take when giving birth to children is that this disorder actually becomes more and more severe as it is passed down from generation to generation. This phenomenon is called anticipation, which has stronger effects in DM1 than in DM2. Anticipation is caused by an increase in the length of the unstable region in the DMPK gene which creates more repeats in the CTG sequence. It is unclear whether or not that anticipation

"Bullying Canada | What is Bullying?."Bullying Canada. N.p., n.d. Web. 1 Mar. 2012. <http://bullyingcanada.ca/content/2399 10 "Living with Muscular Dystrophy."Living with Muscular Dystrophy. N.p., n.d. Web. 1 Mar. 2012. <www.muscular-dystrophy.org/assets/0002/0463/Cost_of_Livin 11 "Line 316 - Disability amount (for self)." Canada Revenue Agency Web site -- Site Web de l'Agence du revenu du Canada. N.p., n.d. Web. 1 Mar. 2012. <http://www.cra-arc.gc.ca/tx/ndvdls/tpcs/ncmtx/rtrn/cmpltng/ddctns/lns300-350/316/menu-eng.html>. 12 "Myotonic Dystrophy." Myotonic Dystrophy. N.p., n.d. Web. 1 Mar. 2012. <www.muscle.ca/fileadmin/National/Muscular_

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SBI 3U1

02/23/2012

occurs in DM2, but the way the process occurs is currently unknown13. Although DM is a very devastating disorder, a proper understanding of the disease and a sense of empathy will allow us to relate to those afflicted by it. While there is only so much that modern medicine can do to treat them physically, the care and support of loved ones will go a long way to make their lives more bearable.

13

"Myotonic dystrophy - Genetics Home Reference." Genetics Home Reference - Your guide to understanding genetic conditions. N.p., n.d. Web. 1 Mar. 2012. <http://ghr.nlm.nih.gov/condition/myotonicdystrophy#diagnosis>.