Is Pompe disease fatal?

Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and skeletal muscles. It is caused by mutations in a gene that makes an enzyme called acid alpha-glucosidase (GAA).

Can Pompe be cured?

Although there currently is no cure for the disorder, Pompe disease treatments can help to ease its symptoms.

What kind of doctor treats Pompe disease?

Because Pompe disease can affect many parts of the body, it’s best to see a team of specialists who know the disease well and can help you manage your symptoms. This might include: A cardiologist (heart doctor) A neurologist, who treats the brain, spinal cord, nerves, and muscles.

How is a person’s life affected by Pompe disease?

Most individuals with late-onset Pompe disease experience progressive muscle weakness, especially in the legs and the trunk, including the muscles that control breathing. As the disorder progresses, breathing problems can lead to respiratory failure.

How does a person get Pompe disease?

The disease results from the deficiency of an enzyme called acid alfa glucosidase (GAA), which breaks downs complex sugars in the body. This buildup occurs in organs and tissues, especially in muscles, causing them to break down. Mutations in the GAA gene, which helps break down glycogen, cause this disorder.

How is Pompe disease diagnosed?

Currently, acid α-glucosidase (GAA) assay performed on skin fibroblasts (preferred tissue) or muscle biopsy, by experienced laboratories is the diagnostic “gold standard” as it can render a definitive diagnosis of Pompe disease, when combined with clinical and laboratory data (muscle histology when available).

What happens to people with Pompe disease?

What are the consequences of Pompe disease?

What are the complications of Pompe disease? Without treatment, infants with Pompe disease will die. Many of the people with Pompe disease have respiratory (breathing) problems, heart problems, and almost all are plagued with muscle weakness. Most people will have to use oxygen and wheelchairs at some point.

How common is it to be a carrier of Pompe disease?

If both parents have Pompe disease, then every child will inherit the disease. If one parent has the disease and the other is a carrier, each child has a 50% chance of inheriting the disease and a 50% chance of being a carrier.

What does it mean if you are a carrier of Pompe disease?

Pompe is a genetic disease that is inherited in an autosomal recessive pattern, meaning that a person develops the disease only if both copies of the GAA gene they inherit are faulty. People with one mutated copy of the gene are called carriers.

Are there any natural cures for Pompe’s disease?

Pompe’s Disease Treatment. Some patients benefit from physical and occupational therapies. Others alter their diet, which may temporarily improve their conditio, but does not cure the disease. Families at risk of having the disease may undergo genetic counseling to gain with regards to the risk in future pregnancies.

How is enzyme replacement therapy used to treat Pompe disease?

Enzyme replacement therapy (ERT) is an approved treatment for all Pompe patients. A drug called alglucosidase alfa is given intravenously (through the patient’s vein). It is a genetically engineered enzyme that acts like the naturally occurring acid alfa glucosidase enzyme.

What causes a person to have Pompe disease?

The symptoms of Pompe disease are caused by missing or insufficient amounts of an enzyme called acid alpha-glucosidase (GAA). This enzyme is needed to break down glycogen, a complex sugar molecule, into glucose, the simple sugar that our bodies use for energy.

What is the prognosis for late onset Pompe disease?

Prognosis. For individuals with late onset Pompe disease, the prognosis is dependent upon the age of onset. In general, the later the age of onset, the slower the progression of the disease. Ultimately, the prognosis is dependent upon the extent of respiratory muscle involvement.