Patient 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.
- HR = 104 bpm
- Respiration = 28 breaths/minute
- Oral temperature 102.4F
- BP = 138/74
- Pupils normal and reactive to light
- No dysarthria or facial muscle weakness was noted
- Percussion of thorax suggested pulmonary infiltrates in the lower lung fields, bilaterally
- Breath dounds reduced, with significant inspiratory rales over both lungs
- cough was very weak, but productive of green sputum. Heart sounds were normal, with no murmur
- bowel sounds normal
- Musculoskeletal exam – scoliotic deformity of the spineupper chest, shoulder, and thigh muscles were significantly atrophied, 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).
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- James suffers from a condition called Duchenne muscular dystrophy. Explain the symptoms of this disease and why they occur.
- 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 the typical microscopic changes noted in the muscle tissue of someone with Duchenne’s muscular dystrophy.
- Which muscles are most severely affected by this disease process?
- Why did James’s calves appear enlarged? What is this condition called?
- At the time of diagnosis, James had an elevated serum creatine kinase (i.e. creatine phosphokinase) level of 26,000 IU / L (normal level is <160 IU / L). What is creatine kinase, and why was this level elevated in James’s blood? (Be Specific.)
- What is a Gower’s sign, and why did James have it?
- Why did James develop scoliosis?
- Why is James susceptible to repeated lower respiratory tract infections?
- What is the average lifespan of an individual with Duchenne muscular dystrophy, and what are some of the more common causes of death in individuals with this disease?
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