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Muscular Dystrophy

Muscular Dystrophy. By Holly Whiteman. What is Muscular dystrophy?. “Inherited disease characterize by progressive weakness and degeneration of the skeletal, or voluntary muscles that control movement.”-MDA volunteer training guide

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Muscular Dystrophy

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  1. Muscular Dystrophy By Holly Whiteman

  2. What is Muscular dystrophy? • “Inherited disease characterize by progressive weakness and degeneration of the skeletal, or voluntary muscles that control movement.”-MDA volunteer training guide • “have incorrect or missing information in their genes, which prevents them from making the proteins they need for healthy muscles”-kidshealth.org

  3. Nine major Forms • myotonic • Duchenne • Becker • Limb-girdle • Facioscapulohumeral (FSH) • Congenital • Oculopharyngeal • Distal • Emery-Dreifuss muscular dystrophies

  4. Symptoms • Mental retardation (only present in some types of the condition) • Muscle weakness that slowly gets worse • Delayed development of muscle motor skills • Difficulty using one or more muscle groups • DRooling • Eyelid Drooling(ptosis) • Frequent falls • Loss of strength in a muscle or group of muscles as an adult • Loss in muscle size • Problems walking(delayed walking)

  5. Diagnois • Physical exam • Doctors look at medical history of patient • So many types of muscular dystrophy-doctor must looks at different things to diagnois each one

  6. Tests to Diagnois • Heart testing - electrocardiography (ECG) • Nerve testing - electromyography (EMG) • Blood testing - including CPK level • Genetic testing for some forms of muscular dystrophy • This disease may also alter the results of the following tests: • Aldolase • AST • Creatinine • LDH • Myoglobin- unrine and Blood

  7. Treatment • There is no cure! • scientists are trying to fix the defective genes that lead to MD so they will make the right proteins • Physical, respiratory, and speech therapy • Braces, wheelchairs- may increase mobility • Surgery- in only some cases • Stay active

  8. Over time • Decrease in muscle strength • Decrease in mobility • Lung failure • Mental impairment • Scoliosis • Cardiomyopathy • Tightening of the muscles around the joints

  9. Life • Lack of privacy • Hard to form social relationships if in constant medical care • May have psychosocial and cognitive difficulties • Need extra care during school

  10. Duchenne • 1 in 3,500 boys • X-linked disease caused by mutations in the dystrophingene • death usually occurs from respiratory failure and cardiac or respiratory complications • Research: On sitting and standing -evaluation scale for sit–stand from the ground for children with Duchennemuscular dystrophy (DMD) and tested its reliability

  11. Study on Duchenne • Scale of Sit–Stand–Ground for DMD • TABLE 1. Functional Evaluation Scale (EAF–DMD): Stand From the Ground • Phase Characteristic Score • From supine to the flexion of the trunk • (Phase 1) • Uses no support 0 • Uses one arm 1 • Uses both arms 2 • Passes from supine straight to sitting and uses both arms 0 • And/or • From supine to lateral decubitus No 0 • Yes 3 • Pass to seated (Phase 2) No 0 • Sits and stays still without using both arms 1 • Sits and stays still using one arm 2 • Sits and stays still using both arms 3 • Pass to cat (Phase 3) Uses both arms 0 • And/or • Pass to kneeling Needs external support point 1 • Position of quadrupedia (Phase 4) Uses both arms 0 • Needs external support point 2 • Does not accomplish quadruped position 6 • Pass from quadrupedia to bipedestation • (Phase 5) • Stands without climbing using legs 0 • Climbs using one arm on the knee 1 • Climbs using both the arms on the knee and thigh 2 • Climbs with the support of both the arms on the leg, knee, and thigh 3 • Needs external support point 4 • Stops in the position with external support 5

  12. Duchenne Cont. • intellectual ability of boys with DMD -one standard deviation below the mean • delayed acquisition of language milestones and • difficulties in reading and narrative abilities • increased rates of a wide range of psychosocial adjustment difficulties in boys with DMD -(ADHD) being most common

  13. SMA • Spinal Muscular Atrophy • Loss of neurons (motor neurons) in spinal cord • Affects part of nervous system that controls voluntary muscle control • Deficiency in a protein called SMN • Four types: I,II,III,IV • Child onset( 6mths to approx4 and adult onset (35+)

  14. MDA Camp • A week long camp in the summer • Camp made to accommodate people with disabilities • Great way for kids to be kids (ages 6 to adult) • Volunteers 16+years of age • Have doctor and nurse on staff all week long to administer medication and therapy

  15. My experience • Camper: Bethany • Age 14 • Had a twin • Type three of her muscular dystrophy • Had to turn her every couple of hours each night • Could not walk-motorized wheelchair • Head needed support • Had to lift her from the wheelchair to bed • Personality: funny, talkative, outgoing, leader, bossy, creative, likes horses

  16. Classroom • Adapt lessons to accommodate students with muscular Dystrophy! • Keep kids active- group activities, stations • Research the student’s type of muscular dystrophy • Communicate with the student’s parents

  17. Activity • Practice lifts -Two-person -Three person -Transfers • Showing Respect -What are some ways to show respect to someone who has Muscular Dystrophy in in your classroom?

  18. References • Board, A.D.A.M. Editorial. "Causes, Incidence, and Risk Factors." Muscular Dystrophy. U.S. National Library of Medicine, 18 Nov. 0000. Web. 01 Apr. 2012. <http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002172/>. • "Diseases - Welcome to MDA | Muscular Dystrophy Association Fighting Muscle Disease." Welcome to MDA. MDA. Web. 01 Apr. 2012. <http://www.mda.org/disease/>. • "Families of Spinal Muscular Atrophy - What Causes Spinal Muscular Atrophy?" Spinal Muscular Atrophy. Families of SMA, 2012. Web. 09 Apr. 2012. <http://www.fsma.org/FSMACommunity/understandingsma/WhatCausesSMA/>. • "TeensHealth." Muscular Dystrophy. He Nemours Foundation. Web. 01 Apr. 2012. <http://kidshealth.org/teen/diseases_conditions/bones/muscular_dystrophy.html>. • MDA Summer Camp Volunteer Training Manual • Journal Articles • Donders, J., & Taneja, C. (2009). Neurobehavioral Characteristics of Children with Duchenne Muscular Dystrophy. Child Neuropsychology, 15(3), 295-304. doi:10.1080/09297040802665777 • Escorcio, R., Caromano, F., Hukuda, M., & Fernandes, L. (2011). Development of an Evaluation Scale for Sitting and Standing From the Ground for Children With DuchenneMuscular Dystrophy. Journal Of Motor Behavior, 43(1), 31-36. doi:10.1080/00222895.2010.530306 • Qian, W., Xiaofeng, Y., Yang, Y., Nan, S., Changkun, L., & Chunlian, J. (2011). Duchenneor Becker muscular dystrophy: A clinical, genetic and immunohistochemicalstudy in China. Neurology India, 59(6), 797- 802. doi:10.4103/0028-3886.91354

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