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What is Sanfilippo Syndrome

Sanfilippo Syndrome description. Find out what Sanfilippo Syndrome is and know more about it.

What is Sanfilippo Syndrome

Sanfilippo Syndrome is a rare genetic disorder that belongs to a group of diseases called mucopolysaccharidoses (MPS). It is characterized by the body's inability to properly break down long chains of sugar molecules called glycosaminoglycans (GAGs). This leads to the accumulation of GAGs in cells throughout the body, causing progressive damage.


Children with Sanfilippo Syndrome appear normal at birth, but as the GAGs build up, they start experiencing developmental delays and behavioral problems. The symptoms typically become more severe with age. Affected individuals may experience speech and language difficulties, hyperactivity, sleep disturbances, and cognitive decline.


Unfortunately, there is currently no cure for Sanfilippo Syndrome. Treatment mainly focuses on managing symptoms and improving quality of life. This may involve physical and occupational therapy, medications to address specific symptoms, and supportive care.


Research efforts are ongoing to develop potential therapies, including enzyme replacement therapy and gene therapy, which aim to address the underlying cause of the disease. Early diagnosis and intervention are crucial in managing Sanfilippo Syndrome and providing the best possible care for affected individuals.


Diseasemaps
4 answers
Sanfilippo Syndrome is a terminal illness that is passed down by both mom and dad. Children are born typical and depending on their severity, they will start to lose the skills and understanding they once had. Eventually they will end up losing all independence and need full time, around the clock care.

Posted Jan 1, 2018 by Danielle 3160
A lysosomal storage disease caused by both mom and dad having same recessive gene that hooks in a pregnancy .

Posted Feb 25, 2019 by Patty Jesse 3000
Sanfilippo is a neurological degenerative disease.

Posted Nov 3, 2019 by Anne-marie 2500

What is Sanfilippo Syndrome

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World map of Sanfilippo Syndrome

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Stories of Sanfilippo Syndrome

SANFILIPPO SYNDROME STORIES
Sanfilippo Syndrome stories
Emily was born a perfectly healthy, 8lb 12oz full term baby girl. She progressed typically until around 3.5yrs old we thought her speech should be a bit more developed than it was. She had also developed what we assumed to be ADHD. Em's first special...
Sanfilippo Syndrome stories
Abby was thought to have PDD-NOS until October of 2017 when she was diagnosed with Sanfilippo Syndrome-type A. She is 22 years old.
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Was 14 years old in 2005 when he gained his wings MPS/sanfilippo/type A
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Reagan was diagnosed at age 3 with MPS III A. Reagan has some hearing loss and speech delay. Reagan is currently involved in a Gene Replacement Therapy Trial.
Sanfilippo Syndrome stories
My daughter was diagnosed with Sanfillippo Syndrome 3 a month after my son passed away at the the age of 26 days old. He was on life support and we has to disconnect life support due to him needing a heart and lung transplant and his organs were fail...

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