Duchenne Muscular Dystrophy: Case Study

As you know Robert was diagnosed with Duchenne Muscular Dystrophy last week. I share my condolences for your family, as this must be a tough time for the both of you. In this letter there will be information regarding what Duchenne Muscular Dystrophy is, how it is caused, how it is treated, and the daily life for those affected with Duchenne Muscular Dystrophy and their family members.

Muscular Dystrophies are genetic disorders that are distinguished by degenerative muscles and weakness in the muscles. Duchenne muscular dystrophy is a dominant sex-linked disorder that mostly affects males, and it affects one in 3,500 males (Furlong, 2015). Males inherit Duchenne Muscular Dystrophy when they get an X chromosome (they inherit the chromosome from their mother) with a mutated dystrophin gene. Since males only have one X-chromosome (males have XY, females have XX), they are more vulnerable. If a female inherits only

The three tests that are customarily used to test Duchenne Muscular Dystrophy, and the milder form of the disease, Becker Muscle Dystrophy, are CPK Assay, DNA testing, and muscle biopsy. If your family has a history of either Duchenne Muscle Dystrophy or Becker Muscle Dystrophy (or both), you can have prenatal testing to see if the child will be born with the disease and develop symptoms. A CPK assay can reveal degeneration of the muscles, while a muscle biopsy and/or DNA biopsy will detect the source of the degenerating muscles. Most males with Duchenne Muscular Dystrophy have lost an exon from their mutated dystrophin gene and a DNA test can identify a male’s gene (Micklos, 2002). If the female is carrying the disease DNA testing and a CPK can reveal that information as well. Other young male family members are at risk of inheriting Duchenne Muscular Dystrophy, and a DNA test would detect the mutated gene before he may show