In children it begins with episodes of pain and burning sensations in hands and feet. Young patients often develop spotted dark red skin rash seen more from umbilicus to knees, decreased ability to perspire, change in cornea that does not affect vision. Fabry is a progressive disease. The defective gene is on the X-chromosome. The X-chromosome is one of two chromosomes that determine a person's sex.
Females have two X-chromosomes, one from each parent.
If father is carrier all daughters will inherit the defective gene, since it is the one X-chromosomes that is transferred from fathers to daughters. Son, who get the Y-chromosome from their father do not inherit the defective gene. Males, on the other hand, have only one X-chromosome, so when that gene is defective, they express the disease. Fabry Disease occurs in all ethnic groups. It is estimated that one in 200 people is a carrier, and one in 40,0000 has the disease.