α Mannosidosis is an extremely rare, progressive, and complex lysosomal storage disease, characterized by mental retardation, hearing impairment, coarse facial features, skeletal abnormalities, and pulmonary involvement. While bone marrow transplantation has been the only therapeutic option to date, nowadays new treatment options are being explored, which may affect pulmonary and exercise capacity.

中文翻译：

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全面的心肺评估在α扁桃体病中。

α扁桃体病是一种极为罕见，进行性和复杂的溶酶体贮积病，其特征是智力低下，听力障碍，面部特征粗糙，骨骼异常和肺部受累。尽管迄今为止，骨髓移植是唯一的治疗选择，但如今正在探索新的治疗选择，这可能会影响肺部和运动能力。