专家呼吁SMA“松软儿”尽早接受治疗
近日，有专家呼吁脊髓性肌萎缩症（SMA）患者，俗称“松软儿”，尽早接受治疗。SMA是一种严重的遗传性神经肌肉病，与渐冻症类似但更为严重。该病主要表现为进行性的肌无力和肌萎缩，尤其是以下肢。虽然该病在罕见病之列，但患病人数却不少。
SMA是由一种缺陷基因引起的，这种基因的缺陷会导致运动神经元逐渐死亡，从而引发肌无力和肌萎缩。该病通常在婴幼儿期发病，患儿的肌肉功能会逐渐减弱，严重的病例甚至会导致呼吸困难和早逝。
专家指出，SMA虽然是一种罕见病，但其严重性不容忽视。因此，早期诊断和治疗对患者至关重要。目前，已经有一种名为“曲妥珠单抗”的药物被证实可以延缓病情进展，但这种药物的价格昂贵，很多家庭难以负担。专家呼吁政府和医疗机构加大对SMA患者的支持，为他们提供经济上的援助，确保他们能够及时获得必要的治疗。
除了药物治疗，专家还建议SMA患者进行物理治疗和康复训练，以增强肌肉力量和改善生活质量。此外，家庭支持和心理辅导也是帮助患者和家人应对这一疾病的重要手段。
在国外，一些国家已经开始对SMA进行新生儿筛查，以便早期发现并治疗患者。专家呼吁我国也应该加强新生儿筛查工作，以提高SMA的早期诊断率，从而更好地帮助患者。
总之，SMA是一种严重的遗传性神经肌肉病，对患者的生活和健康造成了严重的影响。专家呼吁SMA患者尽早接受治疗，包括药物治疗、物理治疗和康复训练。政府和医疗机构应该加大对SMA患者的支持力度，为他们提供必要的经济援助。此外，加强新生儿筛查工作也是非常重要的，以提高SMA的早期诊断率，为患者争取更好的治疗效果。希望通过各方的共同努力，能够为SMA患者带来更多希望和康复的机会。
英语如下：
News Title: Experts Call for Early Treatment! Urgent Attention Needed for Children with Spinal Muscular Atrophy (SMA)
Keywords: Spinal Muscular Atrophy, SMA, Floppy Baby Syndrome
News Content: Experts are calling for early treatment of Spinal Muscular Atrophy (SMA), commonly known as Floppy Baby Syndrome. SMA is a severe genetic neuromuscular disease, similar to but more severe than ALS. The disease is characterized by progressive muscle weakness and atrophy, especially in the lower limbs. Although considered a rare disease, the number of affected individuals is not insignificant.
SMA is caused by a defective gene that leads to the gradual death of motor neurons, resulting in muscle weakness and atrophy. The disease typically manifests in infancy, with the affected child’s muscle function gradually deteriorating. Severe cases can even lead to breathing difficulties and premature death.
Experts point out that although SMA is a rare disease, its severity should not be underestimated. Therefore, early diagnosis and treatment are crucial for patients. Currently, a drug called nusinersen has been proven to delay disease progression, but its high price makes it unaffordable for many families. Experts are calling on the government and medical institutions to increase support for SMA patients and provide them with financial assistance to ensure timely access to necessary treatment.
In addition to drug therapy, experts recommend physical therapy and rehabilitation training for SMA patients to enhance muscle strength and improve their quality of life. Furthermore, family support and psychological counseling are important means of helping patients and their families cope with this disease.
In some countries, newborn screening for SMA has already been implemented to facilitate early detection and treatment of patients. Experts urge China to strengthen newborn screening efforts to improve the early diagnosis rate of SMA and better assist patients.
In conclusion, SMA is a severe genetic neuromuscular disease that significantly impacts the lives and health of patients. Experts call for early treatment of SMA, including drug therapy, physical therapy, and rehabilitation training. The government and medical institutions should increase support for SMA patients and provide necessary financial assistance. Furthermore, strengthening newborn screening efforts is crucial to improving the early diagnosis rate of SMA and achieving better treatment outcomes for patients. Through collective efforts, we hope to bring more hope and recovery opportunities for SMA patients.
【来源】http://www.chinanews.com/life/2024/02-29/10172052.shtml
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