Your 3-year-old nephew Tom has just been diagnosed with pseudohypertrophic muscu

Question

Your 3-year-old nephew Tom has just been diagnosed with pseudohypertrophic muscular dystrophy. How did he get this disease? Is his twin sister, Geri, likely to develop the same condition? Are you likely to get thisdisease? (HINT: see Chapter 25.) You know that musculardystrophy typically causes atrophy or wastingof muscle tissue, yet Tom’s leg muscles seem particularlywell developed. Tom’s physician said that theappearance of Tom’s legs is typical for this form ofmuscular dystrophy. Can you explain this apparentcontradiction?

In this case study, Tom is diagnosed with pseudohypertrophic muscular dystrophy (aka. Duchenne muscular dystrophy, DMD). Click on the following link and read about other types of muscular dystrophy (MD) http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002172/. What is a defining characteristic of all muscular dystrophy diseases aside from the symptom of muscle weakness and loss? Choose one of the other types of MD listed on this webpage and briefly describe the symptoms, treatment and prognosis. (Remember to list your sources using APA format!)

Explanation / Answer

1. Muscular dystrophy is a sex-linked recessive disease that affects males. In this, the females act as carriers and receive the affected allele from their mother. Males can exhibit the phenotype if they inherit only one affected allele, while females have to carry both the alleles to exhibit the phenotype. So, his twin sister may not develop the disease because she inherits only one defective allele. In case of pseudohypertrophic muscular dystrophy or Duchenne muscular dystrophy (DMD), the muscle tissue is replaced by fat and connective tissue so, they look normal but not functional.

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