Pompe disease causes and symptoms

This enzyme is necessary for breaking down glycogen, a complex sugar, in the body.

Pompe disease causes and symptoms

Feeling weak in the legs, trunk, and arms Shortness of breath, a hard time exercisingand lung infections Trouble breathing while you sleep A big curve in your spine Enlarged liver Stiff joints Getting a Diagnosis Many symptoms are similar to other medical conditions.

Do you feel weak, fall often, or have trouble walking, running, climbing stairs, or standing up? Do you have a hard time breathing, especially at night or when you lie down? Do you get headaches in the morning?

Are you often tired during the day? When you were a child, what kinds of health problems did you have? Does or did anyone else in your family have troubles like these, too? Continued You may need to get tests, depending on what symptoms you have, to rule out other conditions.

Check a sample of muscle to see how much glycogen there is Check a blood sample to see how well the "bad" protein is working Look for the genetic problem that causes Pompe disease It can take about 3 months to diagnose Pompe disease in a baby.

It can take as long as years for kids and adults. Questions for Your Doctor What can I expect going forward?

Pompe disease causes and symptoms

What treatments are best for me now? Is there a clinical trial that would be good for me? Do these treatments have side effects?

What can I do about them? How do we check on my progress? Are there new symptoms I should watch for? How often should I see you?

What Is Pompe Disease?

Treatment Early treatment, especially for babies, is key to holding off the damage in the body. Two medications replace the missing protein and help your body process sugar correctly. You take them by injection. A support group can also be a safe place to share your feelings and find understanding.

Support groups can be a good source of practical tips, too. For example, if you have trouble eating, you can try adding thickeners to your food to make it safer to swallow.

You might need to use a feeding tube to make sure you get enough nutrients.


A cardiologist heart doctor A neurologist, who treats the brainspinal cord, nerves, and muscles A respiratory therapist, who can help your lungs and breathing A nutritionist, who can help you eat to stay healthy Generally, the later in life the disease shows up, the slower it moves.Pompe disease (also called as Glycogen Storage Disease II or Acid Maltase Deficiency or Alpha Glucosidase Deficiency) is a rare neuromuscular disorder estimated to happen to 1 in every 40, births.

It is a genetic disorder and often fatal, disabling the heart and the muscles. Click on any of the symptoms below to see a full list of other causes including diseases, medical conditions, toxins, drug interactions, or drug side effect causes of that symptom.

Pompe disease causes and symptoms

When considering symptoms of Pompe disease, it is also important to consider Pompe disease as a . It is interesting, that in his series of patients with adultonset Pompe disease Müller-Felber calculated that it passes 7 years on average between the first medical consultation for symptoms related to the disease and the correct diagnosis.

Pompe disease is a rare genetic disease characterized by the abnormal buildup of a sugar molecule called glycogen inside cells.

This buildup impairs the working of different organs and tissues, especially the heart, respiratory, and skeletal muscles. Causes. What is Pompe Disease? Pompe disease is a neuromuscular kind of disorder that is multisystemic and progressively fatal in nature.

It was coined by a Dutch Pathologist named Joannes C. Pompe. It is known as a genetic condition occurring when there is minimal .

Pompe disease: Introduction. Pompe disease: A rare inherited biochemical disorder where insufficient maltase acid results in accumulation of glycogen.

The condition is often fatal in infants, causes mental retardation, hypotonia and a short life in children and progressive muscle weakness in adults.

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