What is the life expectancy of someone with Pompe disease?
What is the life expectancy of someone with Pompe disease?
They have characteristic heart (cardiac) problems (dysfunction due to heart enlargement) in addition to generalized skeletal muscle weakness and a life expectancy of less than 2 years, if untreated (classic infantile Pompe disease).
Is Pompe disease curable?
Unfortunately, no cure exists. However, Pompe disease has benefited from the introduction of enzyme replacement therapy (ERT), which, although expensive, is a major therapeutic advance.10 Aug 2021
Can you live a normal life with Pompe disease?
They can survive up to age 30 if the disease appears in childhood and up to age 50 if it develops in adulthood. Generally, the later the age of onset, the slower the disease progression and the longer the life expectancy.28 Oct 2019
What is the cause of 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.2 Apr 2019
Is Pompe disease fatal?
Patients with either type of infantile-onset Pompe disease may have their lives prolonged with early detection and treatment. However, both of these types of Pompe disease often are fatal.2 Apr 2019
Is Pompe disease painful?
The median pain severity score in Pompe patients reporting pain was 3.1 (on a scale from 0 to 10), indicating mild pain; against 2.6 amongst controls (p=0.06). The median score of pain interference with daily activities in patients who reported pain was 3.3, against 1.3 in controls (p=0.001).
What is the mortality rate of Pompe disease?
Survival from diagnosis The estimated 5-year survival after diagnosis was 95%. At 10, 20 and 30 years this was 83, 65 and 40%, respectively (Figure 1). Survival estimates of 268 untreated adults with Pompe disease from diagnosis until end of study, start of ERT or death. Twenty-three patients died during follow-up.1 Jun 2011
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.
What happens when you have 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.20 May 2021