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What is muscular dystrophy?

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. Who does the disease affect?.

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What is muscular dystrophy?

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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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