Läs om hur Sandhoffs sjukdom diagnosticeras. Vilka specialister kan man behöva träffa, vilka tester kan behöva göras och annan viktig information om diagnosen Sandhoffs sjukdom
Original
My son was somewhat diagnosed by looking in the back of the eyes to see a "cherry-red" spot on the macula of his eyes. However the only way to get a 100% for sure diagnosis is through genetic testing.