What is Pompe?

Pompee is also know as acid maltase deficiency or glycogen storage disease type II (GSD-II). In laymans terms, it is a nuromuscular disease in which the muscles are lacking a certian ensyme in order to function properly.

Pompe disease has been categorized several different ways in the literature. A neuromuscular disorder—and within that umbrella, a metabolic disease of the muscle—it is one of more than 40 diseases which share a common element of muscle wasting. It was also the first disease to be classified as a lysosomal storage disease (LSD), a family of more than 40 diseases that interfere with the body's ability to degrade complex molecules within the lysosome. Thirdly, Pompe disease is the most severe form of the 12 glycogen storage diseases (GSD), in which an enzymatic deficiency disrupts the normal conversion of glycogen.

You can get more detailed scientific details by visiting the websites I have linked to the right.

Introduction

Hi everyone. I have been toying around with he idea of starting this blog for some time now. I am new to the blogging world, but I think with some time Ill have it down. My purpose and want for this blog is to keep family and friends in the loop about my nuromuscular disease called Pompe. I will go into more detail at the next entry. I also hope that I can be of help to others out there who have this disease and are looking for so info about someone like them who is familiar with what they are going through. Lastly, I hope this will become an outlet for me. Obviously, having a physically dibilitating disease plays a huge toll on your emotions. I hope you will follow me through this journey of my life.