A Rare Case Report of Neurodegenerative Disease: Duchenne Muscular Dystrophy in
ID: 3520597 • Letter: A
Question
A Rare Case Report of Neurodegenerative Disease:
Duchenne Muscular Dystrophy in Two Male Siblings PDF attached (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4562054/)
1. What is the cause of Duchenne Muscular Dystrophy(DMD)? (2 points)
2. Why does this disease only affect males? (2 points)
3. What happens each time the muscle contracts in a child with DMD? (2 points)
4. Document the history given by the parents? ( 4 points)
5. What were the clinical exam findings of both the boys? (12 points)
6. What were the lab/diagnostic test findings? (5 points)
7. What are 3 tests used to confirm the diagnosis of DMD? ( 3 points)
Explanation / Answer
1. Duchenne muscular dystrophy is a genetic disease caused by the absence of dystrophin. It is characterised by progressive degeneration of muscles in the body.
2. Diseases inherited in X-linked recessive pattern affects males. Since DMD is one such disease it mostly affects males. Since in females, a second X chromosome protects from showing symptoms, it is not that common in females.
3. Everytime contraction happens the muscle becomes weaker and weaker due to the absence of dystrophin.
4. The parents said that both the boys were diagnosed with DMD and they showed symptoms like repeated falls, fatigue, inability to climb stairs and muscular weakness in both the boys. Their IQ was normal and their third child was not affected.