Pompe Disease: A Case Study

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Introduction Pompe Disease is also referred to as GAA Deficiency, Glycogenesis Type II, and Glycogen Storage Disease Type II. It is a lysosomal storage disorder that must be passed down by both parents due to the fact that it is a recessive mutation in genes (Type II, 2014). As a lysosomal disorder, Pompe Disease is the inability of lysosomes to breakdown glycogen into glucose and causes the glycogen to build up inside the lysosome (Pompe, 2010). The glycogen build up has specific effects on the muscles of the body
I chose Pompe Disease because of its effects on the muscular system. Also, I feel that, because of its specific effects directly on the lysosomes of cells causing it to be a rare disorder, it does not receive enough attention.
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The noticeable sign in both cases is difficulty breathing due to the respiratory muscles being weakened (Pompe Disease, 2010). In Infantile-Onset, the child is unable to keep up with the development of children their own age and have problems with hearing and during feeding (Pompe Disease Clinical, 2013). With Late-Onset Pompe Disease patients can experience sleeping disorders associated with respiratory problems (Pompe Disease Clinical, 2013). Also associated with Late-Onset Pompe Disease is struggling to carryout everyday tasks due to muscle weakness, this can include simply walking from one area of the patient’s home to another (Type II, …show more content…
Infants have a series of tests done at a young age to check for a range of conditions including Pompe Disease. If a test for Pompe Disease comes back abnormally, another test will be done to verify whether or not the child has the disorder before starting the child’s treatment (Pompe Disease, 2014). In older patients, the diagnosis is not as simple. Their symptoms could be a result of many different conditions. Doctors have concluded that anyone exhibiting issues with breathing properly and muscle strength in their torso and lower limbs should be considered for having Pompe Disease (Manganelli,

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