AGLU03206 OPEN LABEL EXTENSION OF AGLU02704

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 庞贝病是一种罕见的常染色体隐性代谢性肌肉疾病，由酸性Q葡萄糖苷酶缺乏引起，酸性Q葡萄糖苷酶是一种降解溶酶体糖原的酶。与其他糖原储存障碍中仅发生的胞浆内糖原蓄积不同，庞贝病的特点是细胞器结合的溶酶体和许多身体组织中糖原的溶酶体外蓄积，最终导致多系统病理。 根据出现症状的年龄、器官受累的程度和进展至死亡的比率，庞贝病被分为不同的亚型。疾病的范围很广，从快速发展的婴儿期到进展较慢的晚发型，这些极端之间存在着相当大的变异性和重叠。值得注意的是，庞贝病的所有表现都有一个共同的潜在病理：即GAA缺乏并随后糖原积聚。症状出现在儿童时期，或晚至生命的第六个十年。患者表现为进行性肌病，主要发生在骨盆和肩带的近端肌肉，并有不同程度的呼吸受累进展。患者发展为轻微或无心肌病。迟发性Pompe病的病程比婴儿期更难预测，一些患者骨骼肌和呼吸肌功能迅速恶化，导致行走能力丧失和呼吸衰竭，另一些患者进展较慢，另一些患者在骨骼肌和呼吸肌受累的过程中出现分离。 大多数患者会被轮椅束缚，需要呼吸机支持，最终死于呼吸衰竭。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Pompe disease is a rare autosomal recessive metabolic muscle disease caused by the deficiency of acid Q glucosidase an enzyme that degrades lysosomal glycogen. As opposed to the exclusively cytoplasmic accumulation of glycogen that occurs in other glycogen storage disorders, Pompe disease is characterized by organelle bound lysosomal and extra-lysosomal accumulation of glycogen in many body tissues, ultimately leading to multisystemic pathology. Pompe disease is classified into different subtypes based on the age at onset of symptoms, extent of organ involvement, and rate of progression to death. There is a broad spectrum of disease ranging from a rapidly progressive form infantile-onset to a more slowly progressive form late-onset with considerable variability and overlap existing between these extremes. It is important to note that all presentations of Pompe disease share a common underlying pathology; i.e., deficiency of GAA with subsequent accumulation of glycogen. Symptoms appear during childhood or as late as the sixth decade of life. Patients present with progressive myopathy, predominantly of the proximal muscles in the pelvic and shoulder girdles, and a variable progression of respiratory involvement. The patients develop minimal or no cardiomyopathy. The course of late-onset Pompe disease is less predictable than the infantile form, with some patients experiencing a rapid deterioration in skeletal and respiratory muscle function leading to loss of ambulation and respiratory failure, others progressing less rapidly, and others with dissociation in the progression of skeletal and respiratory muscle involvement . Most patients become wheelchair-bound, require ventilator support and ultimately succumb to respiratory failure.