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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.

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Presentation on theme: "What is muscular dystrophy? The muscular dystrophies (MD) are a group of genetic diseases characterized by progressive weakness and degeneration of the."— Presentation transcript:

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. http://www.parentprojectmd.org/dmd/pro- gression.html http://www.parentprojectmd.org/dmd/pro- gression.html


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