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Developing a Treatment Plan for Sanfilippo Syndrome

key information

source: Sanfilippo Syndrome News

year: 2021


Sanfilippo syndrome is a neurodegenerative disorder that affects about one in 70,000 births. Because it’s rare, many physicians are unfamiliar with it and its treatment. This could pose a problem, especially in an emergency.

If your child has Sanfilippo syndrome, working with his or her primary care physician to develop and maintain a treatment plan can help ensure the best possible care.

Causes of Sanfilippo Syndrome

Sanfilippo syndrome is caused by mutations in genes that provide instructions necessary for cells to make essential metabolic enzymes. These mutations cause the enzymes not to function correctly. This causes sugar molecules called glycosaminoglycans to build up inside cells and tissues interfering with their function. With time, this can cause mental deterioration and mobility loss.

How Doctors Treat Sanfilippo Syndrome

There are currently no approved treatments that target the underlying cause of Sanfilippo syndrome. Treatment approaches focus on alleviating symptoms and improving patients’ quality of life. These involve collaboration among a multidisciplinary team of specialists.


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