DNRS 6501 Week 2 Assignment Case Study Analysis

DNRS 6501 Week 2 Assignment

Case Study Analysis

Student Name

Walden University

DNRS 6501: Advanced Nursing Research

Professor Name

Date

Case Study Analysis

Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease, where there is progressive degeneration of the motor neurons, with manifestations of paralysis of muscles, loss of respiratory capacity, and paralysis (Keon et al., 2021). Familial ALS was diagnosed in 32-year-old Maria Lopez via an SOD1 gene mutation in this case report. The report outlines pathophysiology at the cellular level, the presence of genetic mutation, its impact on the immune system, as well as on modalities of cure.

Pathophysiology and Symptom Development

ALS selectively kills motor neurons in the spinal cord and brain and results in progressive muscle weakness and atrophy. Upper and lower motor neuron degeneration results in faulty voluntary control of the muscles, producing symptoms of muscle fasciculations, spasticity, dysphagia, and respiratory failure (Pikatza-Menoio et al., 2021). Maria has classic ALS symptoms, including progressive muscle weakness (3/5 strength), dysarthria, absent gag reflex, and diaphragmatic weakness.

Her deteriorating respiratory function is underscored in arterial blood gas tests with low pH (7.30), high pCO2 (55 mmHg), and low pO2 (78 mmHg). The findings are indicative of hypoventilation secondary to diaphragmatic weakness that places her at high risk for respiratory failure. In addition, her high white blood cell level (12.3 × 10^9/L) and C-reactive protein (8.2 mg/L) reflect an inflammatory response secondary to aspiration pneumonia, a frequent complication in ALS patients with bulbar dysfunction (Pikatza-Menoio et al., 2021).

Genetic Mutations and ALS Pathogenesis

Maria’s inherited diagnosis of ALS results from a SOD1 gene mutation coding for superoxide dismutase 1. Superoxide dismutase 1 is an enzyme that aids in free radical removal. Mutations of SOD1 cause toxic protein clumping, oxidative stress, and apoptosis, leading to motor neuron death (Guo et al., 2024). Progressive motor neuron loss results in the disruption of neuromuscular transmission and causes muscle weakness, atrophy, and independent breathing loss. Her family history, including her mother’s death from ALS at the age of 50, also supports the hereditary aspect of the disease.

Impact on the Immune System and Treatment Strategy

Neuroinflammation plays a significant role in the progression of ALS. Activated microglia and astrocytes release pro-inflammatory cytokines, which enhance neuronal degeneration (Liu et al., 2021). Maria’s immune response, as reflected by increased inflammatory markers, suggests that immune dysregulation is involved in disease progression.

Treatment approaches now include slowing the progression of disease and symptom management. Riluzole 50 mg BID blocks glutamate excitotoxicity, extending survival. Baclofen to 10 mg TID reduces muscle spasticity. The use of Nuedexta, as directed, can reduce bulbar symptoms, enhancing speech and swallowing function (Liu et al., 2021). Non-invasive ventilation (BiPAP) is indicated to aid respiratory function, and PEG tube insertion is provided to avoid aspiration-related complications and ensure proper nutrition.

Conclusion

Maria Lopez’s condition reflects the intricate interplay of genetic, cellular, and immunological mechanisms that underlie ALS disease progression. Her worsening neuromuscular function requires multimodal therapy with respiratory care, nutritional support, and symptom control. Because no cure is available, interventions like BiPAP, PEG tube insertion, and adjustment of medications are utilized to improve her quality of life and delay disease progression.