PDF(Pubmed)
Abstract：
UNASSIGNED: Spinal muscular atrophy (SMA) is a growing clinical concern, necessitating higher awareness and early detection. This case study focuses on the difficulties and advances in detecting and treating SMA. It emphasizes the value of early detection, interdisciplinary care, genetic testing, and novel therapeutics in terms of improving outcomes.
UNASSIGNED: Spinal muscular atrophy type 1 (SMA Type 1) is a rare genetic neuromuscular disease characterized by muscle atrophy and weakness. This case report presents the fatal outcome of a 1-year-old girl with delayed diagnosis of SMA Type 1. The child exhibited symptoms of muscle weakness and respiratory distress, which were initially overlooked. Despite a thorough examination and diagnostic tests, including genetic analysis, SMA Type 1 with a homozygous deletion in the survival motor neuron 1 (SMN1) gene was confirmed. The child received supportive measures and physiotherapy but experienced a progressive deterioration of her condition and eventually succumbed to the disease. This case underscores the challenges of diagnosing SMA and highlights the importance of early identification for appropriate management. Improved awareness, diagnostic protocols, and access to treatment options, including pharmacological drugs and gene therapy, are essential to improve outcomes for SMA Type 1 patients, particularly in resource-limited settings. Early detection through newborn screening programs and timely intervention can significantly impact the prognosis and life expectancy of SMA Type 1 children, emphasizing the need for continued research and clinical trials to establish a definitive cure.
UNASSIGNED: Spinal muscular atrophy type 1 (SMA Type 1) is a rare genetic neuromuscular disease characterized by muscle atrophy and weakness. This case report presents the fatal outcome of a 1-year-old girl with delayed diagnosis of SMA Type 1. The child exhibited symptoms of muscle weakness and respiratory distress, which were initially overlooked. Despite a thorough examination and diagnostic tests, including genetic analysis, SMA Type 1 with a homozygous deletion in the survival motor neuron 1 (SMN1) gene was confirmed. The child received supportive measures and physiotherapy but experienced a progressive deterioration of her condition and eventually succumbed to the disease. This case underscores the challenges of diagnosing SMA and highlights the importance of early identification for appropriate management. Improved awareness, diagnostic protocols, and access to treatment options, including pharmacological drugs and gene therapy, are essential to improve outcomes for SMA Type 1 patients, particularly in resource-limited settings. Early detection through newborn screening programs and timely intervention can significantly impact the prognosis and life expectancy of SMA Type 1 children, emphasizing the need for continued research and clinical trials to establish a definitive cure.
摘要：
■脊髓性肌萎缩症（SMA）是一个越来越多的临床问题，需要更高的意识和早期发现。本案例研究的重点是检测和治疗SMA的困难和进展。它强调早期发现的价值，跨学科护理,基因检测,以及在改善结果方面的新疗法。
■脊髓性肌萎缩症1型（SMA1型）是一种罕见的遗传性神经肌肉疾病，其特征是肌肉萎缩和无力。此病例报告介绍了一名1岁女孩延迟诊断SMA1型的致命结局。这个孩子表现出肌肉无力和呼吸窘迫的症状，最初被忽略。尽管进行了彻底的检查和诊断测试，包括基因分析,证实了在存活运动神经元1（SMN1）基因中具有纯合缺失的SMA1型。孩子接受了支持性措施和物理治疗，但病情逐渐恶化，最终死于疾病。此案例强调了诊断SMA的挑战，并强调了早期识别对适当管理的重要性。提高意识,诊断方案,以及获得治疗选择，包括药物和基因疗法,对改善SMA1型患者的预后至关重要，特别是在资源有限的环境中。通过新生儿筛查计划早期发现并及时干预可以显着影响SMA1型儿童的预后和预期寿命。强调需要持续的研究和临床试验来确定最终的治疗方法。
■脊髓性肌萎缩症1型（SMA1型）是一种罕见的遗传性神经肌肉疾病，其特征是肌肉萎缩和无力。此病例报告介绍了一名1岁女孩延迟诊断SMA1型的致命结局。这个孩子表现出肌肉无力和呼吸窘迫的症状，最初被忽略。尽管进行了彻底的检查和诊断测试，包括基因分析,证实了在存活运动神经元1（SMN1）基因中具有纯合缺失的SMA1型。孩子接受了支持性措施和物理治疗，但病情逐渐恶化，最终死于疾病。此案例强调了诊断SMA的挑战，并强调了早期识别对适当管理的重要性。提高意识,诊断方案,以及获得治疗选择，包括药物和基因疗法,对改善SMA1型患者的预后至关重要，特别是在资源有限的环境中。通过新生儿筛查计划早期发现并及时干预可以显着影响SMA1型儿童的预后和预期寿命。强调需要持续的研究和临床试验来确定最终的治疗方法。
