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What is Pompe Disease?

Pompe disease is a very rare genetic disorder. It affects how our bodies use glycogen, a type of carbohydrate stored in cells for energy. Normally, there’s an enzyme called alpha-glucosidase that helps break down glycogen into glucose, which our body can use for energy. But in Pompe disease, there isn’t enough of this enzyme, so glycogen builds up in different parts of our body, especially in the muscles. This causes the cells not to work properly and makes the muscles weak, which can lead to serious problems and even death if not treated.

Other names for Pompe disease

  • Acid Maltase Deficiency
  • Glycogen Storage Disease Type II
  • Acid Alpha-Glucosidase (GAA) Deficiency

Pompe disease can affect different parts of the body, like the heart, lungs, and muscles. The symptoms can vary depending on when the disease starts and how bad it is. When it starts in infancy, it’s called infantile-onset Pompe disease, and it’s very severe. Babies with this form have weak muscles, an enlarged heart, and find it hard to breathe. Without treatment, babies with infantile-onset Pompe disease usually don’t live past their first birthday.

In most cases, Pompe disease starts later in life, in childhood, teenage years, or even adulthood. This form is milder and slower, but it still causes muscle weakness, trouble breathing, fatigue, and difficulty moving. This version is also serious, but the symptoms progress slower.

Doctors can diagnose Pompe disease by doing tests, like checking the enzyme levels in the blood and doing genetic tests to look for specific genetic mutations related to the disease. They might also do muscle biopsies or special imaging to see how much damage has happened in the muscles.

At this time, there is no cure for Pompe disease, but researchers have found a way to help manage it. It’s called enzyme replacement therapy (ERT), and it involves giving the missing enzyme to the body through regular infusions. This treatment can help control the symptoms, make the muscles work better, and help people with Pompe disease live longer, especially if they start the treatment early.

Researchers are also studying other ways to treat Pompe disease, like gene therapy, which aims to fix the genes that cause the problem. This could lead to better and more targeted treatments in the future.

People with Pompe disease are cared for by a team of doctors, including geneticists, metabolic specialists, and physical therapists. These specialists work together to make a plan that fits each person’s needs. Other treatments, like respiratory support, physical therapy, and mobility aids, can also help manage the symptoms and make daily life easier for people with Pompe disease. For those with Pompe disease and their families, it’s essential to have genetic counseling to understand how the condition can be passed down to future generations.

Reference: rarediseases.org/rare-diseases/pompe-disease/