case study 5

Question 1

scenario

Answer 1

In the first year of his life, James reached many gross motor skill milestones, such as holding his head up, rolling over, sitting, and standing, at normal times. However, he did not walk until age 16 months, and by age two, started to assume a lordotic posture while standing but not while sitting. Over the next several years, he suffered progressive muscle weakness, most notably in the proximal musculature of the arms, pelvis, and legs. By age 10, he needed braces to walk. James’ symptoms are the due to inherited disease that impacts the protein dystrophin.

Question 2

Draw a sarcomere and the major associated proteins.

Answer 2

drawn out

Question 3

What is the location and function of dystrophin?

Answer 3

location: between the myofibril and sarcolemma

function: connects the end of the actin to a protein in the cell membrane

Question 4

What is the disease does James have and briefly describe it?

Answer 4

Duchenne muscular dystrophy.

Over time, muscle weakness decreases mobility, making everyday tasks difficult because of the degenerative disease. the disease can be because of genetics or mutation in DNA.