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?  The disease affects all people who come in contact with the child with different reactions

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

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

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

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

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

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

Preventative measures  No way to stop progression but prenatal diagnosis is available for future pregnancies

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

Stages of DMD  Typically DMD is diagnosed between the ages of three and seven  Four stages of DMD

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

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

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

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

Works Cited  “Parent Project Muscular Dystrophy.” gression.html. gression.html gression.html