genetic
Sanfilippo syndrome
Sanfilippo , also known as type III, is a rare lifelong disease that mainly affects the brain and spinal cord. It is caused by a problem with how the body breaks down certain large sugar molecules called . In children with this condition, these sugar molecules build up in the body and eventually lead to damage of the central nervous system and other organ systems.
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Symptoms — what it feels like
- ·Progressive intellectual disability; ; ; loss of mobility
Causes — why it happens
- ·Inherited
How it's found
- ·MPS urine screen (initial test), confirmed by blood test
Treatment
- ·There is no cure; only symptom management
Outlook
- ·Lifespan is reduced; most patients survive until the early teenage years, but some may reach their 30s
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See all of Thyroid & Hormones →Plain-language summary adapted from Wikipedia. Not medical advice.