大医晓病 | 樊东升：早诊断、早治疗对渐冻症患者至关重要

Core Insights - Amyotrophic Lateral Sclerosis (ALS), commonly known as Lou Gehrig's disease, is characterized by the gradual loss of motor neurons in the brain and spinal cord, leading to muscle atrophy and loss of motor function [2][3] - ALS is classified as a neurodegenerative disease, similar to Alzheimer's and Parkinson's, and is currently considered incurable, with treatment focused on stabilizing or delaying the progression of the disease [2][3] Drug Availability - Currently, there are "two and a half" drugs available for ALS treatment: Riluzole from Sanofi, Edaravone from Mitsubishi Pharma, and Tofersen from Biogen, which is effective for only 2% of patients [4] Patient Symptoms and Disease Progression - Early symptoms of ALS may include insomnia, anxiety, and weight loss, with later stages leading to speech difficulties, swallowing issues, and abnormal bowel and bladder function [5][9] - The disease progresses rapidly, with many patients having a life expectancy of around five years post-diagnosis [4] Quality of Life Improvement - Early diagnosis and treatment are crucial, as the average delay in diagnosis has historically been 10-11 months, but awareness is improving, allowing for earlier intervention [6] - Early diagnosis is also vital for new drug development, as clinical trials often require early-stage patients [6] Disease Mechanisms and Triggers - The exact causes of ALS remain unclear, but potential mechanisms include excessive neuronal excitation, insufficient energy metabolism, and oxidative stress [9][10] - Factors such as weight loss, high-altitude exposure, and physical or mental stress can accelerate the onset of ALS symptoms [9][10] Misconceptions and Myths - There is a condition known as "pseudo-ALS" that mimics ALS but has a clear cause and can be treated effectively, with about 5% of suspected ALS cases falling into this category [11] - The placebo effect is a significant concern in ALS treatment, as patients may perceive improvements that are not clinically substantiated [11] Technological Advancements - Brain-computer interfaces could significantly enhance the quality of life for ALS patients by enabling communication and interaction with the outside world, especially in advanced stages of the disease [12]