Jordan is now 19-years old. As an infant, Jordan reached many gross motor skill milestones, such as holding his head up, rolling over, sitting, and standing, at normal times. However, he was considered a "late walker" because he took his first steps at 17 months. By 2 years old, his parents noticed a hyperlordotic posture while he was standing. A Gower's sign and Trendelenberg gait were noted by age four. Throughout his childhood, he suffered progressive muscle weakness, especially in the proximal musculature of the arms, pelvis, and legs. He required orthotic braces to assist his walking and was confined to wheelchair ambulation by age 13.
At 16, he was hospitalized with bronchitis requiring antibiotic treatment, but recovered. Jordan has a history of progressive muscle weakness, but no history of muscle pain or spasm, chest pain, or irregular heartbeat. The only medications that he normally takes are calcium and fluoride supplements. Jordan has three siblings. His older and younger sisters have never had any major medical issues. Jordan's older brother is also to a wheelchair with problems similar to Jordan's. No other immediate or distant family members have musculoskeletal issues.
Jordan's history aligns most closely with which diagnosis?
- Amyotrophic lateral sclerosis
- Myotonic dystrophy
- Multiple sclerosis
- Duchenne muscular dystrophy
Jordan had a biopsy of the left gastrocnemius muscle when he was 5 years old. Based on your answer for his diagnosis, describe the microscopic pathological changes that the pathologist would have noted in her report.