How does Pompe disease affect muscles?

Pompe disease happens when your body can’t make a protein that breaks down a complex sugar, called glycogen, for energy. Too much sugar builds up and damages your muscles and organs. Pompe disease causes muscle weakness and trouble breathing.

What is Pompes disease?

Definition. 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).

What are the signs and symptoms of Pompe disease?

What are the symptoms of each type of Pompe disease?

  • Weak muscles.
  • Poor muscle tone.
  • Enlarged liver.
  • Failure to gain weight and grow at the expected rate (failure to thrive)
  • Trouble breathing.
  • Feeding problems.
  • Infections in the respiratory system.
  • Problems with hearing.

How is Pompe disease diagnosed?

It can be done as a blood test or as a skin biopsy, in which a small sample of skin is taken for testing. You or your child may also have genetic testing, which looks for mutations in the gene that controls this enzyme, to confirm the diagnosis.

Is Pompe disease a form of muscular dystrophy?

A few muscular dystrophies may have symptoms that are like those seen in childhood and adult Pompe disease including facioscapulohumeral dystrophy (FSHD), Duchenne muscular dystrophy and Becker muscular dystrophy. FSHD is characterized by weakness of facial, shoulder (scapular winging), and upper arm muscles.

What are the symptoms of late onset Pompe disease?

Symptoms of late-onset Pompe disease Patients may develop a waddling or swaying gait, and may find it difficult to stand after sitting, running, or climbing stairs. As muscle weakness is progressive, facial muscles, muscles supporting the spine, and those involved in breathing and eating can also be affected.

What are the two types of Pompe disease?

Pompe disease is known under the alternative names ‘glycogen storage disease type II’ (GSDII), acid alpha-glucosidase (GAA) deficiency, and ‘acid maltase’ deficiency (acid maltase is another name for acid alpha-glucosidase).

How long can you live with Pompe disease?

Life Expectancy in Late-Onset Pompe Disease Patients with LOPD experience muscle weakness and respiratory difficulties. If the condition starts in childhood, patients may survive up to the age of 30 years; if it starts in adulthood, they can live to 50 years of age.

What are the symptoms of late-onset Pompe disease?

What definitive laboratory test will you order for Pompe disease?

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 is the life expectancy of someone with Pompe disease?