Pompe disease

Understanding Pompe disease in Australia

Understanding Pompe disease in Australia

Pompe disease, or acid maltase deficiency, is defined as an autosomal recessive metabolic disease that destroys muscle along with nerve cells throughout the body. The disorder is initiated by a build-up of glycogen in the lysosome as a result of deficiency of the lysosomal acid […]

High out of pocket medical expenses and health cost in order to access in Australia the Drug treatment Myozyme to help treat rare Pompe disease

High out of pocket medical expenses and health cost in order to access in Australia the Drug treatment Myozyme to help treat rare Pompe disease

Pompe disease is a rare, progressive degenerative muscle disorder that can render sufferers immobile, wheelchair bound and with gradual respiratory failure. The condition is extremely rare, with an estimated occurrence of one in 40,000 live births. In Australia there are less than 30 individuals diagnosed […]