About Pompe Disease

Is there a cure/medications for Pompe Disease?

Yes, there is a medication called Myozyme (alglucosidase alfa) that is used to treat Pompe Disease. It is an enzyme replacement therapy that helps to replace the missing enzyme in the body. It is administered through an intravenous infusion every two weeks. Other treatments may include physical therapy, occupational therapy, and respiratory therapy.

What are the risk factors for Pompe Disease?

1. Family history: Having a family member with Pompe Disease increases the risk of developing the condition.

2. Age: Pompe Disease is more common in adults, although it can occur at any age.

3. Gender: Pompe Disease is more common in males than females.

4. Ethnicity: Pompe Disease is more common in people of Ashkenazi Jewish descent.

5. Genetic mutation: A mutation in the GAA gene is the cause of Pompe Disease.

What are the treatments for Pompe Disease?

The treatments for Pompe Disease depend on the severity of the condition. Treatment options may include enzyme replacement therapy, physical therapy, occupational therapy, speech therapy, respiratory therapy, nutritional support, and medications to manage symptoms. In some cases, a ventilator may be needed to help with breathing. In severe cases, a heart-lung transplant may be necessary.

What are the causes of Pompe Disease?

Pompe Disease is caused by a genetic mutation in the GAA gene, which is responsible for producing an enzyme called acid alpha-glucosidase (GAA). This enzyme is responsible for breaking down glycogen, a type of sugar stored in the body's cells. When the GAA gene is mutated, the body is unable to produce enough of the enzyme, leading to a buildup of glycogen in the cells. This buildup can cause a variety of symptoms, including muscle weakness, heart and respiratory problems, and difficulty swallowing.

What are the symptoms of Pompe Disease?

The symptoms of Pompe Disease vary depending on the age of the person affected and the severity of the condition. Common symptoms include:

-Muscle Weakness and loss of muscle mass
-Difficulty breathing
-Cardiomyopathy (heart muscle disease)
-Gastrointestinal problems
-Delayed motor development
-Loss of muscle tone
-Loss of reflexes
-Loss of coordination
-Muscle contractures
-Difficulty swallowing
-Fatigue
-Liver enlargement
-Enlarged tongue
-Facial weakness
-Developmental delays
-Seizures
-Learning disabilities

What is Pompe Disease?

Pompe disease is a rare, inherited disorder caused by a deficiency of the enzyme alpha-glucosidase. This enzyme is responsible for breaking down glycogen, a type of sugar stored in the body's cells. Without this enzyme, glycogen builds up in the cells, particularly in the heart, skeletal muscles, and liver, leading to progressive muscle weakness and organ damage. Pompe disease is also known as glycogen storage disease type II.