AGLU03206 OPEN LABEL EXTENSION OF AGLU02704

这个子项目是许多研究子项目中的一个 由NIH/NCRR资助的中心赠款提供的资源。子项目及 研究者（PI）可能从另一个NIH来源获得了主要资金， 因此可以在其他CRISP条目中表示。所列机构为 研究中心，而研究中心不一定是研究者所在的机构。 庞贝氏症是一种罕见的常染色体隐性遗传肌肉代谢性疾病，由酸性Q葡萄糖苷酶（一种降解溶酶体糖原的酶）缺乏引起。与其他糖原贮积症中发生的糖原的专门细胞质蓄积相反，庞贝氏症的特征在于许多身体组织中糖原的细胞器结合的溶酶体和溶酶体外蓄积，最终导致多系统病理学。 庞贝氏症根据症状发作时的年龄、器官受累程度和进展至死亡的速度分为不同的亚型。疾病的范围很广，从快速进展的发作型到进展较慢的晚发型，这些极端之间存在相当大的变异性和重叠。重要的是要注意，庞贝氏症的所有表现都有一个共同的潜在病理学;即，GAA缺乏，随后糖原积累。 症状出现在儿童时期或晚至60岁。患者表现为进行性肌病，主要发生在骨盆和肩胛带的近端肌肉，并伴有呼吸系统受累的可变进展。患者发生轻微或无心肌病。晚发性庞贝氏症的病程比婴儿型更难预测，一些患者经历骨骼和呼吸肌功能的快速恶化，导致肌肉功能丧失和呼吸衰竭，其他患者进展较慢，其他患者在骨骼和呼吸肌受累的进展中分离。 大多数患者坐轮椅，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.