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Published byFerdinand Edwards Modified over 8 years ago
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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.
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Who does the disease affect? The disease affects all people who come in contact with the child with different reactions
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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
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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
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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
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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
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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
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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
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Preventative measures No way to stop progression but prenatal diagnosis is available for future pregnancies
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Importance of genetic testing GT is analysis of genes Family members tested for those that are possible carriers During pregnancy, 95% accuracy of diagnosis
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Stages of DMD Typically DMD is diagnosed between the ages of three and seven Four stages of DMD
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Early phase (diagnosis through age 7) It is during this early phase that the calves may seem overdeveloped
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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
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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
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Adult Stage Heart muscle problems occur which can lead to life threatening complications Death with DMD usually occurs in the 20’s
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Works Cited “Parent Project Muscular Dystrophy.” 2003. http://www.parentprojectmd.org/dmd/pro- gression.html. http://www.parentprojectmd.org/dmd/pro- gression.html http://www.parentprojectmd.org/dmd/pro- gression.html
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