What is muscular dystrophy The muscular dystrophies MD

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

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

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

Cause of Duchenne Muscular Dystrophy Ø 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 Ø Dystophin is a protein that is needed in the body, otherwise the muscle cells will weaken and die Ø It is carried by the X-chromosome making males more susceptible to the problems because they only have one Xchromosome

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

Males are at greater risk for developing DMD Ø 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 Ø No way to stop progression but prenatal diagnosis is available for future pregnancies

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

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

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

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

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

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

Works Cited Ø “Parent Project Muscular Dystrophy. ” 2003. http: //www. parentprojectmd. org/dmd/progression. html.