FC: All About Pompe Disease
1: What is Pompe Disease? | Pompe disease is a rare disorder that ceases the functionality of the heart muscles caused by a gene mutation that reduces or stops the production of the enzyme alpha-glucosidase(GAA). | GAA breaks down glycogen which stores energy. the glycogen builds up over time in the body with the skeletal muscles and the heart most seriously affected.
2: How is it Inherited? | Pompe disease is an autosomal recessive trait which means both parents must be carriers and the child has only 25% chance of recieving the disease. | What are the symptoms? | The most common symptoms are: progressive muscular weakness, cardiomyopathy(in infants), and respiratory insufficiency. Symptoms vary in each patient.
3: How is it diagnosed? | Diagnoses of pompe may not be immediately considered during clinical workup because its symptoms are similar to other disorders. That said, there are guidelines for diagnosing Pompe disease such as: pelvic weakness, Orthopnea, mild scapular winging.
4: How is it treated? | Treatments can range from medicine and lifestyle changes to relief of symptoms. Enzyme Replacement Therapy(ERT) is a treatment that provides patients with an external source of the GAA the their body is unable to produce.
5: What is the prognosis? | Prognosis varies depending on the patients age at the time of development. Infants tend to progress more rapidly and die by age one of cardiorespiratory failure. If it arises later in life, the rate of progression varies. Since patients may worsen at any time, it is difficult to predict a single person's lifespan. Regardless, patients usually die of respiratory failure.
6: What will life be like for a child with Pompe disease? | If Pompe disease shows up in a child's life after year one, life will be increasingly difficult as their muscles are slowly growing weaker and having trouble with their breathing while lying down. It isn't easy picking a person in a crowd that has Pompe disease.
7: Where can someone with Pompe disease turn to for help? | There are many organizations that offer support to people with Pompe disease, such as: The Acid Maltase Deficiency Association, The Association for Glycogen Storage Disease, The United Pompe Foundation, and many others.
8: Inheritance Chart
9: muscles cells with glycogen buildup.