n.神经节苷脂贮（沉）积症

Gangliosidosis is a rare genetic disorder that affects the storage and metabolism of gangliosides in the body.
这是一种罕见的遗传疾病，影响身体中神经节苷脂的储存和代谢。
The early symptoms of GM1 gangliosidosis often include poor feeding and lack of muscle tone.
GM1神经节苷脂病的早期症状通常包括喂养困难和肌肉无力。
Treatment for gangliosidosis varies depending on the specific type and severity of the condition.
对于神经节苷脂病的治疗因具体类型和严重程度而异。
Neonatal screening programs have been implemented to identify infants with certain types of gangliosidoses, allowing for early intervention.
已经实施了新生儿筛查计划来识别患有某些类型神经节苷脂病的婴儿，以便尽早干预。
Heritable gangliosidosis, such as Tay-Sachs disease, can lead to progressive neurological degeneration.
可遗传的神经节苷脂病，如泰-萨克斯病，可能导致渐进性的神经系统退化。
Research efforts are ongoing to develop potential therapies for these devastating diseases, including gene therapy for gangliosidosis.
研究人员正在努力开发针对这些毁灭性疾病的潜在疗法，包括针对神经节苷脂病的基因疗法。
Affected individuals may experience vision problems, seizures, or cognitive delays due to gangliosidosis.
患者可能因神经节苷脂病而出现视力问题、癫痫或认知迟缓。
Early diagnosis and management are crucial in managing the complications associated with gangliosidosis.
早期诊断和管理对于处理神经节苷脂病相关的并发症至关重要。
Support groups and counseling services are available for families affected by gangliosidosis to help them cope with the emotional challenges.
为受影响的家庭提供支持团体和咨询服务，以帮助他们应对情感挑战。
Although there is no cure for gangliosidosis, advancements in medical knowledge have improved outcomes for some patients.
虽然目前没有治愈神经节苷脂病的方法，但医学知识的进步已改善了一些患者的预后。