Q: Who treats Pompe Disease?
A: Consultations with a pediatric cardiologist, neurologist, and a clinical geneticist are required.
Q: Are dietary modifications recommended for Pompe disease?
A: It has been found that nutritional support does not change the disease course. A high-protein diet is thought to provide temporary improvement.
Q: Does Pompe disease affect day-to-day activities?
A: Weakness may profoundly affect the normal daily activities of the patient. Physical and occupational therapy may help.
Q: Is DNA analysis helpful?
A: The identification of carriers in a family with an affected individual is possible by DNA analysis. Carriers do not have the clinical disease. But it cannot be used as a reliable means for diagnosing the disease.
Q: What role does genetic counselling and prenatal screening have?
A: As already explained, Pompe disease is inherited in an autosomal recessive fashion, i.e., both parents should individually pass on a mutated copy of the gene so that the offspring gets the disease. There is a 25% recurrence risk for each subsequent pregnancy.
Prenatal tests like chorionic villus sampling and amniocentesis, where fetal tissues are studied, are useful in the diagnosis of Pompe disease.
Q: What is the major complication of Pompe disease?
A: Muscle weakness can lead to the aspiration of foreign materials into the respiratory system leading to a fatal condition called aspiration pneumonia.
