Response to the letter 'How to describe the clinical spectrum in Pompe disease?'

摘要

In the accompanying Correspondence Dr. A.J.J. Reuser and Dr. D. Gungor [ 2012 ] note that Pompe disease is a continuous spectrum of phenotypes from which subtypes cannot be subdivided, despite the usefulness of categories in understanding the nuances of Pompe disease. The authors point out that, even among experts who contributed to the American Journal of Medical Genetics Part C on "Advancements in Pompe Disease" [Kishnani et al., 2012] the nomenclature utilized to describe Pompe disease varies greatly and lacks clear, uniform terminology, especially for the late onset group. In the issue referenced above, the series of articles focuses on current updates in the field of Pompe disease. Although, we chose not to concentrate on fine-tuning the nomenclature, we do agree and acknowledge that there is variable terminology for Pompe disease, as mentioned in the introductory article. This issue of AJMG and recent articles underscore the need for us to work together in pursuit of better understanding of the emerging issues of this disease.