Muscular Histology Case Study

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Take Test: Muscular Histology Case Study
Chief ComComplaint: 19-year-old non-ambulatory male with pneumonia.
History: James Fenlow, a 19-year-old male, is immobile and hospitalized for pneumonia. He has a long history of progressive weakening of his muscles. 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. A Gower’s sign was noted by age four, as was a Trendelenberg gait. Over the next several years, he suffered progressive muscle weakness, most notably in the proximal musculature of the arms, pelvis, and legs. By age 9, he required orthotic braces to assist his walking, and by age 11, he was confined to wheelchair ambulation. In his early teen years, James was still able to use eating utensils, write, and type on a keyboard, though these functions have declined over the past year. At 16, he was hospitalized with bronchitis requiring antibiotic treatment, but recovered. Throughout the years, James has had no history of muscle pain or spasm, chest pain, or irregular heartbeat. He was diagnosed with a learning disability in the fourth grade, but has progressed through the grades with tutorial assistance. The only medications that he normally takes are calcium and fluoride supplements. James has a younger sister in good health and a younger brother (age 10) who is confined to a wheelchair with problems similar to James’s. No other immediate or distant family members have musculoskeletal difficulties.
Physical Examination: On examination, James appeared fatigued and short of breath. Vital signs: (1) heart rate = 104 beats per minute, (2) respiratory rate = 28 breaths per minute, (3) temperature (oral) = 102.4 degrees F, and (4) blood pressure = 138 / 74. Pupils were normal and reactive to light, with ocular movements intact. No dysarthria or facial muscle weakness was noted. Percussion of the thorax suggested pulmonary infiltrates in the lower lung fields bilaterally. Breath sounds were reduced, with significant inspiratory rales heard over both lungs. His cough was very weak, but productive of green sputum. Heart sounds were normal, with no murmur. Bowel sounds were normal. Musculoskeletal exam revealed a scoliotic deformity of the spine when James sat up. Upper chest, shoulder, and thigh muscles were significantly atrophied, but the calf muscles appeared enlarged. Bilateral elbow contractures limited elbow extension to 80 degrees. Bilateral Achilles contractures were also present. Muscle strength was reduced in the biceps and triceps brachii muscles bilaterally (+2 on a scale from 0 to +5, +5 being normal), deltoids (+1), and he was not able to move either thigh into flexion or extension. Muscle stretch reflexes (rated on a scale from 0 to +4, +2 being normal) were as follows: right and left biceps and triceps brachii (+1), right and left brachioradialis (+1), right and left patellar reflexes (0), and right and left ankle jerks (+1). I
Complete the case study using information from your text book and web resources.
1. At age 4, James underwent a biopsy of the right gastrocnemius muscle.
The pathologist’s report noted histopathologic changes suggestive of Duchenne muscular dystrophy.
Describe in detail the typical microscopic and cellular changes noted in the muscle tissue of someone with Duchenne’s muscular dystrophy.
1. Which muscles are most severely affected by this disease as the disease progresses? The muscle mostly affected by the disease
What is the usual progression over time?
1. What is dystrophin and how does it related to James’ disease? How is distribution of dystrophin determined in the histology laboratory? What are the major microscopic differences between healthy muscle tissue and DMD muscle tissue?

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