When the Body Falls Silent: A Case Report of Amyotrophic Lateral Sclerosis

当身体沉默之时:肌萎缩侧索硬化症病例报告

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Abstract

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder affecting both upper and lower motor neurons, resulting in muscle weakness, atrophy, and, ultimately, respiratory failure. We present the case of a 49-year-old man who sustained a right wrist injury in January 2023, for which he sought evaluation by his general practitioner (GP). Due to an unfavorable recovery, he was referred to the emergency department (ED) in September of the same year, where the diagnostic workup was initiated. Following a series of complementary diagnostic tests, a diagnosis of ALS was established at the end of September. Electromyography demonstrated widespread denervation with both acute and chronic neurogenic changes, while complementary diagnostic studies excluded alternative etiologies. The patient subsequently began follow-up with a multidisciplinary team encompassing the various domains of ALS management over the following 17 months. Riluzole therapy was initiated. He ultimately passed away in February 2025, having demonstrated remarkable resilience throughout the course of his illness. This case highlights the devastating impact of early-onset ALS and underscores the importance of maintaining clinical suspicion when evaluating adults presenting with progressive neuromuscular symptoms. The rapid disease progression and associated psychosocial burden emphasize the critical role of multidisciplinary management, early palliative integration, and strong primary care involvement in optimizing patient and family support.

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