NURS 6501 Week 2 Assignment Case Study Analysis

NURS 6501 Week 2 Assignment

Case Study Analysis

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Walden University

NURS6501 

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Date

Case Study Analysis

The neurodegenerative disease Amyotrophic Lateral Sclerosis (ALS) damages motor neurons until it causes complete muscle weakness, together with respiratory difficulties and entire body paralysis. A research study investigates familial ALS development through genetics while evaluating the disease’s impact on immune systems and discusses available treatment methods for the condition (Verma et al., 2022). This analysis has two main goals. These are to determine the mechanisms that cause this condition and to investigate new treatment methods. The 32-year-old patient Maria Lopez shows symptoms of familial ALS with SOD1 gene mutation by developing advanced muscle weakness, swallowing problems, and repeated respiratory infections.

Pathophysiological Process & Symptom Development

The disorder called ALS causes a molecular breakdown of both upper and lower motor neurons, which produces ongoing muscle tissue deterioration and someones ‘ ability to perform voluntary body movements. The deterioration of motor neurons causes an irreversible decline of signal transmission to muscles that leads to muscle weakness with spasticity and complete muscle loss (Mitchell et al., 2024). Neuronal death results from cellular dysfunction through oxidative stress, mitochondrial damage, and excitotoxicity. It produces muscle atrophy together with dysphagia and respiratory disability. Scientists have determined glutamate excitotoxicity and protein aggregation work as major factors in developing symptoms that produce permanent neurological damage.

Genetic Mutations and Disease Development

The SOD1 gene mutation that causes Familial ALS allows superoxide dismutase enzyme 1 to break free radicals into non-harmful entities. Some forms of SOD1 protein malfunction result in aggregation, which produces toxic chains that create oxidative stress that speeds up motor neuron degeneration (Naik et al., 2025). In numerous familial ALS cases, autosomal dominance rules how disease heredity works since one SOD1 mutation raises the risk of inheriting it. Ascertaining disease risk requires at-risk persons to undergo genetic testing accompanied by professional counseling.

Impact of ALS on the Immune System

The disease characteristic of ALS involves persistent neuroinflammation that leads to microglial activation and higher concentrations of inflammatory mediators. Processing of the disease advances when the immune system becomes uncontrolled because it worsens damage to neurons while making it harder for the body to eliminate harmful protein clusters. Patients with advanced ALS develop immune system deficiencies (Piancone et al., 2021). It significantly increases their risk of getting respiratory infections that become the primary causes of death in this condition. The successful treatment of inflammation and infection requires immediate focus for better patient responses.

Treatment Strategies and Pathophysiological Targeting

Medical care aims to decelerate ALS progression and handle symptoms since there is no known cure for the disease. The FDA approves Riluzole and Edaravone as the current medicines that delay survival decline (Pattee et al., 2023). The maintenance of quality of life depends heavily on supportive care measures. It includes physical therapy together with non-invasive ventilation, as well as nutritional support. Medical research teams evaluate three promising experimental approaches. These are stem cell therapy, gene silencing strategies, and neuroprotective medications to fight ALS disease-based mechanisms.

Conclusion

The described case presents an overview of ALS that reveals its multilayered nature and explains both its genetic composition and disease processes and treatment difficulties. The management of familial ALS requires immediate detection along with genetic support, which helps patients get necessary interventions promptly. Research involving gene therapy in combination with studies of neuroinflammation and regenerative medicine continue to develop new methods for better ALS treatment and potential therapeutic breakthroughs.