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  • Duchenne Muscular Dystrophy

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    Beti Perez
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    Duchenne muscular dystrophy is a genetic disorder caused by a mutation in the dystrophin gene on the X chromosome, leading to progressive muscle degeneration and weakness. It mostly affects boys and symptoms begin in early childhood with clumsiness and falling. Over time, it causes weakness in the trunk and limbs and loss of ambulation by the teenage years. Later stages involve life-threatening heart and respiratory complications as all muscles gradually weaken. While there is no cure for DMD, treatment focuses on physical therapy, orthopedic devices, and respiratory assistance to manage symptoms.

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    Duchenne muscular dystrophy is a genetic disorder caused by a mutation in the dystrophin gene on the X chromosome, leading to progressive muscle degeneration and weakness. It mostly affects boys and symptoms begin in early childhood with clumsiness and falling. Over time, it causes weakness in the trunk and limbs and loss of ambulation by the teenage years. Later stages involve life-threatening heart and respiratory complications as all muscles gradually weaken. While there is no cure for DMD, treatment focuses on physical therapy, orthopedic devices, and respiratory assistance to manage symptoms.

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    4 views7 pages

    Duchenne Muscular Dystrophy

    Uploaded by

    Beti Perez
    Duchenne muscular dystrophy is a genetic disorder caused by a mutation in the dystrophin gene on the X chromosome, leading to progressive muscle degeneration and weakness. It mostly affects boys and symptoms begin in early childhood with clumsiness and falling. Over time, it causes weakness in the trunk and limbs and loss of ambulation by the teenage years. Later stages involve life-threatening heart and respiratory complications as all muscles gradually weaken. While there is no cure for DMD, treatment focuses on physical therapy, orthopedic devices, and respiratory assistance to manage symptoms.

    Copyright:

    © All Rights Reserved
    Download as PPTX, PDF, TXT or read online from Scribd
    Flag for inappropriate content
    Download as pptx, pdf, or txt
    of 7

    Jancis Nikko V.

    Dorado
    Maria Betina Perez
    What is Duchenne
    Muscular
    Dystrophy?

    Genetic Disorder

    Progressive muscle
    degeneration and
    weaknesses

    Absence of protien
    dystrophin

    Mostly affect boys


    Mutation in the gene dystrophin located in human X
    chromosomes
    Early phase(<6yrs)-Clumsy, fall frequently
    Transitional Phase(6-9)-Trunk weaknesses, muscle
    weaknesses
    Loss of ambulation(10-14)-Usage of powered wheel
    chair(scoliosis)
    Late stage(15+)-Life threatening
    Muscle weaknesses- as early 0f age 3
    Psedohypertophy
    Pain and sensation
    Heart-weaken myocardiom(cardiomyopathy)
    Weaken respiratory Muscle
    Learning disability
    There is no cure to DMD
    Physical theraphy
    Orthopedic appliance
    Respiratory assistant

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