Muscle wasting is progressive, meaning that eventually, patients will lose their ability (or in affected infants, fail to develop an ability) to walk, or perform activities that require sustained motion.
Pompe disease is caused by a build up of glycogen (a type of sugar) in the cells, which causes muscles and organs not to function properly. Pompe disease is an inherited disease which means you can only get it from your parents when they both have a copy of the Pompe disease gene.
in 1932 by a dutch pathologist J Pompe
yes
lysosomes
Lysosomes
No, Pompe disease is an autosomal recessive disorder, which means that both copies of the gene must be altered for a person to show symptoms. It is not linked to the sex chromosomes.
Lysosomes are the organelles that become defective in these diseases.
It took 3 muscle biopsies to diagnose my Pompe. Although I believe a blood spot test is the best way to diagnose it.
The muscle weakness caused by Pompe disease affects many parts of the body. It can result in difficulties with walking and moving around, breathing properly, even eating and performing basic day-to-day tasks. Because the effects of Pompe disease are wide-ranging, proper management requires a comprehensive approach.
it is were it affects your repository system
it is were it affects your repository system
it is were it affects your repository system