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Acid Maltase Deficiency (AMD) (Also known as Pompe's Disease)
Definition - one of a group of muscle diseases
that interfere with the processing of carbohydrates to draw energy from food
Cause - a defect in the gene for the acid maltase enzyme (also known as
acid alpha-gluocosidase), which affects the storage and breakdown of glycogen
Onset - infancy to adulthood
Symptoms - slowly progressive weakness of respiratory muscles, those of
the hips, upper legs, shoulders and upper arms; cardiac involvement may occur
in childhood form, less common in adults
Progression - slowly progressive and less severe in childhood and
adult-onset forms; infantile form often leads to death by age 2
Inheritance - autosomal recessive, or caused by the contribution of a
defective gene from each parent
