1 / 16

According to the March of Dimes Foundation ,

According to the U.S Census Bureau, for the year 2008, worldwide:. 133, 353 , 798 babies born per year. According to the March of Dimes Foundation ,. Approximately 6% of all births worldwide have some form of a genetic disorder.

reia
Download Presentation

According to the March of Dimes Foundation ,

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. According to the U.S Census Bureau, for the year 2008, worldwide: 133, 353, 798 babies born per year. According to the March of Dimes Foundation, Approximately 6% of all births worldwide have some form of a genetic disorder. According to the National Human Genome Research Institute, 1/3,500 MALE babies have the genetic disorder, Duchenne muscular dystrophy. Therefore, approx. 19,800 males are born with DMD each year. http://www.census.gov/cgi-bin/ipc/pcwe http://jpma.org.pk/ViewArticle/ViewArticle.aspx?ArticleID=470

  2. Duchenne Muscular Dystrophy SBI3U -Dyda Dao www.cbsnews.com www.jettfoundation.org www.biochem.arizona.edu www.sciencemuseum.org.uk

  3. What is DMD? • The chromosomal disorder, Duchenne Muscular Dystrophy is the most common and severemuscular dystrophy. • This disorder of the muscle is defined as progressive muscle weakness and atrophy. • It is also know as pseudohypertrophic muscular dystrophy . http://www.ucl.ac.uk/~ucbhjow/medicine/images/human_karyotype.gif http://www.parentprojectmd.org/site/PageServer?pagename=und_symptoms • This genetic disease is inherited on the x-chromosome and is sex-linked recessive. This means that males are mainly affected and this disease is usually inherited from the carrier mother. It is rare for a female to have a severe case of DMD. • Life expectancy for boys with DMD is in the late teens and early twenties.

  4. Guillaume-Benjamin Duchenne de Boulogne (1806-1875) HISTORY • This French neurologist described the • disease in his book in 1861. • However , there is controversy over who • was the first to diagnosis DMD. • Recent historical findings indicates that an English physician named, Edward Meryon (1807-1880) described DMD several years before Duchenne. http://images.google.ca/imgres?imgurl=http://vitruvio.imss.fi.it/foto/sim/simbio/simbio-300205_300.jpg&imgrefurl=http://brunelleschi.imss.fi.it/museum/esim.asp%3Fc%3D300205&h=300&w=243&sz=55&hl=en&start=1&um=1&tbnid=NjeqgOafUxQoPM:&tbnh=116&tbnw=94&prev=/images%3Fq%3Dguillaume%2Bbenjamin%2Bduchenne%26um%3D1%26hl%3Den%26sa%3DN

  5. CAUSES • It is a sex-linked diseaseinherited on the x-chromosomefrom the carrier mother. • This disease is caused by changes and mutations in the DMD gene on the x-chromosome. ghr.nlm.nih.gov • The DMD provides instruction for the protein dystrophin, which maintains the structural integrity of muscles. • Therefore, the mutation of the DMD gene will prohibit the production of dystrophin. • This deficiency of dystrophin will cause muscle weakness and decay, as well as other symptoms. http://content.answers.com/main/content/wp/en/a/a3/XlinkRecessive.jpg • Since females have two X-chromosomes, if she inherits an X-chromosome with a mutation that causes the muscular dystrophy in the DMD gene, she is a carrier. However, her other x-chromosomes with the normal DMD gene will prevent her from developing symptoms. • Since males have X and Y chromosomes, if he inherits an X-chromosome that is affected with the mutation for Duchenne, he has no normal DMD gene and therefore has the muscular dystrophy.

  6. The probability of a male child to inherit the affected gene for DMD from the carrier mother is 50%. • There is also a 50% change that the female child will become a carrier for DMD. • Duchenne Muscular Dystrophy can also be caused by new mutation that occurs for the first time in the egg or sperm. • 1/3 of males with DMD have no family history • of the disease. • 2/3of males with DMD inherit the disease for the first time in their family, from a distant relative (who developed the mutation on the DMD gene). http://www.ikm.jmu.edu/Buttsjl/ISAT493/Duchenne%20Muscular%20Dystrophy/duchenneincidence.html http://www.biologyreference.com/images/biol_02_img0200.jpg

  7. SIGNS & SYMPTOMS The symptoms & signs are usually noticed in the early childhood years. (before the age of 6) Initial Symptoms: • Difficulty with Motor Skills • The child has a waddle walk and frequent falls occurs. http://orthoinfo.aaos.org/figures/A00384F01.jpg • Difficulty in running, jumping, etc. • Inability to get up from the floor from sitting • position and climbing stairs – Gower’s Sign is demonstrated. • The ability to walk is usually loss by the age of 12, therefore wheelchairs are required. • Psuedohypertrophy– The calves appear large and • defined due to the deposits of fatty and fibrous tissue • that are replacing muscle tissue. http://www.hn-ivf.cn/Release/admin/uploadImages/20056149283995070.jpg • Progressive Muscle Weakness - Muscle weakness and wasting.

  8. Progressive Muscle Weakness & Wasting -The weakness begins at the centre of the body (the pelvis) and progresses outwards from the hips and shoulders to the legs, lower trunk and arms. -Both sides of the body are symmetrically affected. - Eventually the muscles of the neck are affected. - In addition, the muscles of the digestive tract are affected in some males . focosi.immunesig.org • Female carriers have a mild muscle weakness. X-ray of the legs and pelvis, where muscle weakness occurs. • The cardiac muscles are also effected - This causes respiratory and heart problems such as cardiomyopathy and breathing difficulties, which can lead to death. -Cardiac and respiratory problems usually leads to death before the age of 20 years . http://disability.ucdavis.edu/newsletters/images/newsletter3-dmdPicture1.gif

  9. Later Symptoms: • Deformities of the body: - Severe Muscle Contraction and stiffening develops - Scoliosisdevelops- where the spine curves to one side, compressing the lungs on that side . • Sole of the foot turns inwards (TALIPES). www.aurorahealthcare.org/.../si55551399_ma.jpg • Some boys have mental problems and learning disabilities. www.neurologyindia.com http://www.eurospine.org/cm_data/Scoliosis_Fig07_en.jpg

  10. iris.peabody.vanderbilt.edu Posture & Skeletal changes during the progression of DMD http://www.dinf.ne.jp/doc/english/global/david/dwe002/dwe002g/dwe00212g01.gif

  11. DIAGNOSIS Diagnosis are based on clinical symptoms, family history and tests: MEDICAL TESTS: http://www.mda.org/publications/pub_images/q13-3_jerry_mendell2.jpg Creatine Kinase (CPK) Test- the enzyme, creatine kinase are released into the bloodstream as muscle cells disintegrate. High-levels of creatine kinase in the blood indicate a muscular dystrophy. Muscle Biopsy- A small fragment of the muscle tissue is removed and are studied to reveal how much dystrophin is present. Electromyogram (EMG)- Records the electrical activity of muscles. It is used to determine if the symptoms are from muscle are nerve problems. Genetic/DNA Testing- A DNA sample is taken and the genetic testing will show the mutation in the DMD gene. www.sciencemuseum.org.uk

  12. Treatment & Preventions • Unfortunately, there is no cure for DMD. However, there are treatments to manage the symptoms of DMD and also to prevent them. Proper treatment could allow the male with DMD to live around 20 years. Preventions • A Well balance diet with enough fiber to prevent constipation. • Avoid weight gain and obesity. • Prevent any problems or deformities (such as joint contractures) through exercise, physiotherapy and surgery. • Exercise often and inactivity is not encouraged because this will worsen the muscle problems. • Orthopedic devices may delay the age which the child begins to use a wheel chair. • Prolong walking by splints from buttocks to the knee. • Respiratory care is necessary when the cardiac muscles are affected. • Surveillance of the heart and the body, tests, and regular check ups is mandatory. www.iol.ie/.../journal/vlume4/isue1/d1.jpg www.cincinnatichildrens.org

  13. Medications: An anti-inflammatory medication called prednisone may help delay the progression of DMD and improve muscle strength. Surgery: Surgery is necessary in treating muscle contractures, correcting scoliosis and other problems. Other: - vaccinations, assistive devices such as wheel chairs and canes, and support groups. http://newsimg.bbc.co.uk/media/images/44185000/gif/_44185913_dan203.gif www.77canadapharmacy.com www.fortnet.org

  14. Future Outlook/ Research Currently, there are research in treatments, drugs, gene therapy and stem cell therapy: • DRUGS: • At the University of California Los Angeles (UCLA), researchers are studying a drug called Albuterol. This drug could promote muscle mass and strength. http://www.ncbi.nlm.nih.gov/disease/DMD.html www.medicine.uiowa.edu • GENE THERAPY: • Dystrophin synthesis, where the dystrophin gene is injected into the patient’s muscles (show to work in dystrophic mice). This blocks the mutation in the dystrophin gene. • In addition, researchers found a substitution for dystrophin called “utrophin”.

  15. STEM CELLS TRANSPLANTS There is research in human embryonic stem cell transplants. The patient is injected with healthy stem cells that will produce dystrophin. http://www.bcro-asia.com/images/DSCF0388.jpg http://www.astrographics.com/GalleryPrints/Display/GP2159.jpg • MYOBLAST –TRANSFER THERAPY • Scientist cured mice with a similar dystrophy to DMD. The mice were unable to produce dystrophin. By injecting immature muscle cells called myoblast (carries muscle protein) from healthy male donors, into the tissue, the mice begin to produce dystrophin. • In addition, a boy with DMD received myoblast injections in his big toe. This allowed him to move his big toe more than before. http://wwwimage.cbsnews.com/images/2001/09/26/image312653x.jpg&imgr

  16. Bibliography • Bosworth, Michelle Q. (2005). Duchenne Muscular Dystrophy. The Gale Encyclopedia of Genetic Disorders (Volume, pp. 381-386). Farmington Hills: Thomson Gale. • Butt, Jennifer. Duchenne Muscular Dystrophy. Retrieved April 10, 2008 on the World Wide Web :http://www.ikm.jmu.ea/buttjl/SAT493 • Emery, Alan E.H. (2001). The Muscular Dystrophies. New York: Oxford University Press Inc. • Emery, Alan E.H. (2000). Muscular Dystrophy: the Facts. New York: Oxford University Press Inc. • Fackelmann, K.A. (1992). Muscular Dystrophy: New focus on myoblasts. Science News, 141 (11), p. 167. Retrieved April 10, 2008 from Canadian Research Centre Database on the World Wide Web: <http://search.ebscohost.com/login.aspx?direct=true&db=rch&AN=9203232125&site=src-live> • Jacoby, David B. (1998). Muscular Dystrophy. Encyclopedia of Family Health (Volume 9, pp. 1153 -1155). Tarrytown: Marchall Cavendish Corp. • Kirmse, Brian. (2006). Duchenne Muscular Dystrophy. Retrieved March 30, 2008 on the World Wide Web: http://www.nlm.nih.gov/medineplusnency/article/000705.html> • National Human Genome Research Institute. (2008). Learning about Duchenne Muscular Dystrophy. Retrieved April 13, 2008 on the World Wide Web: <http://www.genome.gov/pfv.cfm?pageID=19518854> • Tortera, Gerard J. (1996). Principles of Anatomy and Physiology. New York: HarperCollins Publishers Inc. • Wynbrandtt, James. (2000). Muscular Dystrophy. The Encyclopedia of Genetic Disorders and Birth Defects (Second Edition, pp. 231-232). New York: Facts on File, Inc.

More Related