Podcast from Neurology Now Magazine
Today we’re looking at Pompe, a progressive genetic disease which, to me, has the physical symptoms of Muscular Dystrophy (generalized skeletal muscle weakness, hypotonia in addition to other things that make it stand out including: weakness of respiratory and cardiac muscles, cardiomegaly (big heart), enlarged liver and macroglossia (big tongue)), but has a different cause. Pompe disease is caused by a genetic defect in which the person is unable to properly metabolize glucose, so their organs fill up with undigested glucose. Treatment includes modifying the diet to decrease glucose (carbohydrates) and I didn’t see anything on the web, but in the podcast the interviewee mentions immunoglobulin therapy.
As I’ve said before, the likelihood of a you seeing this disease is slight, but since therapists are the hands-on medical professional, it may be YOU that can distinguish Pompe from Muscular Dystrophy.
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On another note, I am taking on some additional responsibilities for the next 6 months or so as I study for the Neurological Clinical Specialist (NCS) exam. So, as a result, I will be scaling back my posting to 3 times a week. However, as I come across interesting things in my studies, I will certainly share!