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Understanding Muscular Dystrophy: Symptoms, Causes & Prevention

Muscular Dystrophy is a genetic disease causing muscle weakness and degeneration. Learn about Duchenne Muscular Dystrophy, its symptoms, causes, genetic testing, stages, and preventative measures. Genetic mutations affecting dystrophin production lead to progressive muscle deterioration. Males have higher risk due to X-chromosome inheritance. Prenatal diagnosis available. Stages progress from early symptoms to loss of ambulation and potential heart complications in adulthood. Stay informed to improve management and care.

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Understanding Muscular Dystrophy: Symptoms, Causes & Prevention

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  1. What is muscular dystrophy? The muscular dystrophies (MD) are a group of genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement.

  2. Who does the disease affect? • The disease affects all people who come in contact with the child with different reactions

  3. Symptoms of Muscular Dystrophy • initially there are gait disturbances resulting in repeated falls • progression includes spine curvature, muscle wasting, and enlargement of calves • wheelchair occurs at age of 10-12

  4. Symptoms specific to Duchenne Muscular Dystrophy • DMD has symptoms including the heart muscle and intellectual difficulties • Problems involving respiratory infections and heart ineffectiveness can lead to life threatening complications

  5. Cause of Duchenne Muscular Dystrophy • DMD is caused by a gene mutation that effects the production of dystophin which is a protein that assists in keeping the structure of the muscle cells

  6. The dystophin gene • Dystophin is a protein that is needed in the body, otherwise the muscle cells will weaken and die • It is carried by the X-chromosome making males more susceptible to the problems because they only have one X-chromosome

  7. Exceptions to the rule • Females who carry a copy of the mutated gene may develop milder symptoms • May be caused by new genetic mutations occurring for unknown reasons

  8. Males are at greater risk for developing DMD • Due to the fact that males have only the one X-chromosome there cannot be anything wrong with it because there isn’t an extra as in the case with females

  9. Preventative measures • No way to stop progression but prenatal diagnosis is available for future pregnancies

  10. Importance of genetic testing • GT is analysis of genes • Family members tested for those that are possible carriers • During pregnancy, 95% accuracy of diagnosis

  11. Stages of DMD • Typically DMD is diagnosed between the ages of three and seven • Four stages of DMD

  12. Early phase (diagnosis through age 7) • It is during this early phase that the calves may seem overdeveloped

  13. Transitional Phase • DMD has usually been diagnosed by this stage between 6-12 years • Child will have trouble walking due to the weaker thigh muscles resulting in increased falls

  14. Loss of ambulation • By the age of 12 a wheelchair will likely be needed • During teen years most significant loss of skeletal muscle strength is lost

  15. Adult Stage • Heart muscle problems occur which can lead to life threatening complications • Death with DMD usually occurs in the 20’s

  16. Works Cited • “Parent Project Muscular Dystrophy.” 2003. http://www.parentprojectmd.org/dmd/pro-gression.html.

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