Description
The infantile form of Pompe disease is extremely rare and readily available information for parents and healthcare professionals is scarce.
The natural history of the disease shows that most babies with infantile Pompe disease used to die before their first birthday from cardiac/respiratory failure. With the introduction of an enzyme replacement therapy (ERT) the natural history of the disease can now be modified.
The aim of this booklet is to provide reliable, up to date information for parents, their families and professionals involved in the care and management of these infants.
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