1 / 18

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

hisano
Télécharger la présentation

Muscular Dystrophy

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. 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

More Related