What is Pompe Disease?
Pompe disorder is a genetic disorder caused by the accumulation of complex sugar called glycogen in organs and tissues. The lack of acid alpha-glucosidase, the enzyme responsible for breaking sugar cells into smaller molecules, results in muscle damages.
Individuals with this degenerative muscle disorder may lose the ability to move arms and legs, and it may also limit their capacity to breathe independently.
How to diagnose?
Blood work showing a low level of enzyme activity and gene sequencing.
What is the treatment?
Enzyme replacement is the most common treatment. More treatment options are in the pipeline, including gene therapy. Appropriate care and adjunct therapies will lead to the alleviation of symptoms and improvement of quality of life.
Pompe Disease
Classic Infantile-Onset
It usually appears in infants within a few months of birth and one of the early symptoms is the difficulty of gaining weight and the ability to grow at a regular rate.
Symptoms include: muscle weakness, poor muscle tone, enlarged liver, trouble breathing, lung infections, hearing problems, and heart defects.
Non-Classic Infantile-Onset
It usually appears in infants within a few months of birth and one of the early symptoms is the difficulty of gaining weight and the ability to grow at a regular rate.
Symptoms include: muscle weakness, poor muscle tone, enlarged liver, trouble breathing, lung infections, hearing problems, and heart defects.
Late-Onset
Patients start feeling the symptoms later into their teen years or even in adulthood.
Symptoms include: progressive muscle weakness (legs and trunk), mobility limitation, breathing problems, shortness of breath, morning headaches, scoliosis and/ curved spine, enlarged heart, falling often, weight loss, difficulty of hearing and swallowing.
5,000 to 10,000Estimated Cases Worldwide
Symptoms:
Poor muscle tone
Breathing issues
Enlarged heart
Treatments:
Enzyme Replacement Therapy (ERT)
*Other treatments under development
