What is Sanfilippo syndrome type A?
Sanfilippo (san-fuh-LEE-po) syndrome is a rare genetic metabolism disorder. A change in a single gene makes a child’s body unable to break down certain carbohydrates (sugars). This leads to serious problems in the brain and nervous system. There is no cure yet for Sanfilippo syndrome.
What is the prognosis of Sanfilippo syndrome?
Sanfilippo syndrome is a progressive disorder with a very poor prognosis. Severe CNS degeneration occurs, with progression to a vegetative state. Most patients do not live beyond age 20 years, with death primarily due to respiratory complications.
Is Sanfilippo syndrome detected before birth?
If you and your partner conceive naturally, you can undergo prenatal genetic diagnostic tests for Sanfilippo syndrome. There are two main methods that doctors generally use: amniocentesis and chorionic villus sampling (CVS). Both methods allow doctors to obtain DNA from the fetus for genetic testing before birth.
Do Sanfilippo children go through puberty?
Three boys with mucopolysaccharidosis type III A (Sanfilippo) entered puberty at the ages of 5.9, 6.6 and 9.6 years. The diagnosis of central precocious puberty (GnRH-dependent) was established on the basis of pubertal levels of basal and GnRH-stimulated gonadotropins, LH and FSH.
What is the longest someone has lived with Sanfilippo syndrome?
The current view is that patients with Sanfilippo syndrome will live between 10 and 20 years from when they are diagnosed with the disease. However, some patients have been reported to have lived to age 50.
What is the oldest someone has lived with Sanfilippo syndrome?
It was December 2017, and Isla was almost nine years old — the oldest Sanfilippo child in the world to be part of a gene therapy trial.
What are the stages of Sanfilippo?
Three stages of developmental delays have been proposed for patients with Sanfilippo syndrome type A: a first stage, between 1 and 4 years of age, characterized by developmental delays and slowing in cognitive development; a second stage, from 3 to 4 years, characterized by behavioral difficulties, sleep impairment and …
How do I know if my child has Sanfilippo?
One of the most common and initial symptoms of Sanfilippo syndrome is developmental delays, especially speech delays. Children usually begin normal development after their birth, but progress in intellectual, motor and speech milestones starts to slow around age 2.
What causes death in Sanfilippo?
Pneumonia remains the primary cause of death in patients with Sanfilippo syndrome types A and B. The study of Spanish patients with Sanfilippo syndrome types A and B showed that the cause of death in six patients was respiratory infection, whereas four subjects died due to cardiorespiratory failure [32].