Which genetic mutations are commonly associated with the disease? Why is the patient presenting with the specific symptoms described? Discuss the pathophysiological mechanisms of the disease in detail. What do the blood test results tell us about the disease and disease progression? A 32-year-old female, Maria, presents to the clinic with progressive muscle weakness, difficulty swallowing, and frequent respiratory infections over the past year. She reports occasional muscle cramps and has noticed twitching (fasciculations) in her arms and legs. Her mother passed away at age 50 due to complications from a neuromuscular disorder. Genetic testing reveals a mutation in the SOD1 gene, known to be associated with familial Amyotrophic Lateral Sclerosis (ALS)