Q:
What is pompe disease and its prognosis?
A:
Pompe disease means that your body can’t make a specific protein that breaks down glycogen, a complex sugar to get energy. When too much sugar piling up, your muscle and organs may be damaged.
The disease is more common in African-American people and some Asian groups. Given that every case is different, the patients should seek professional diagnosis and receive proper treatments.
Standard prenatal chromosome analysis can’t detect the disease. So, genetic counseling is highly recommended for couples before achieving a pregnancy.
Causes
Pompe disease is inherited from your parents. To get it, you must have two flawed genes from each of your parent. With only one flawed gene, the disease is asymptomatic.
Symptoms
Late-onset pompe disease may show no symptoms until childhood, adolescence, or adulthood. But some may present as early as the first year of life. What symptoms you have, when they begin and how much trouble they may bring to you can vary for different people. Some pompe disease symptoms can include:
- Infantile with pompe disease – having difficulty gaining weight, trouble eating, breathing problems and lung infections, poor head, and neck control, rolling over and sitting up later than expected, enlarged liver and tongue
- Late-onset pompe disease – feeling fatigue in arms, trunk and legs, breathing problems and lung infections, have breathing difficulties while sleeping, stiff joints, enlarged liver, and tongue
Prognosis
If babies with pompe disease get no treatment, they will die from cardiac failure or a respiratory infection before the age of 1 or 2.
While for individuals with late-onset pompe disease, the prognosis depends on the age of onset. Usually, the later the age of onset, the slower the progression of the disease will be.
Treatment
Patients with the disease should seek early treatments, especially for babies. People with the conditions can take myozyme and mumizyme by injection to replace the missing protein and help their body process sugar effectively. Support groups can be a good way for the patients to gain comfort and stay strong.
If you have any doubts about the treatments, please go to the doctor and seek professional advice.
Keywords: pompe disease; prognosis; causes; symptoms; treatment; Q&A
