INHERITED DISORDER: Pompe Disease
BY: Shannon Cullen
Symptoms & Description
The people who are affected by this disease can't produce the maltase acid, this gets rid of excess glycogen in muscle cells, and then their muscle cells become overrun with glycogen. This produces a degeneration of muscle tissue. The severity of the symptoms depend on the type of pompe disease you have, either infantile, childhood or adult,. As for small children they will have extreme;y weak muscles and no tone in skeletal muscles. Weakness or enlargement of the heart can occur. For children progressive weakening of the skeletal and respiratory muscles. High blood pressure in the artery is also very common for adults.
Inheritance Pattern
This disease is autosomal recessive. One thing I found interesting about this disease was that there are three different types that affect three different kinds of people.
Treatment/Cure
There is no cure for this disease. Although, there are treatment options for it, such as, enzyme replacement therapy.