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Learn about whether your child’s unexplained low muscle tone could be caused by AADC Deficiency

When your child’s low muscle tone (hypotonia) goes unexplained, a rare genetic disorder may be the cause

This website provides information about one rare disorder called Aromatic L-amino Acid Decarboxylase (AADC) deficiency, which can cause hypotonia and other symptoms in children.

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Watch one family talk about their experience with AADC deficiency and the journey they took to get a diagnosis for their daughter.

“She’s an angel. We feel like we’ve been blessed with an angel, and Jillian’s got an amazing spirit.”—Kelly Heger, mother and caregiver of Jillian Heger

Connect with PTC Therapeutics

This website can help you:

Learn about the symptoms of AADC deficiency

Receive more information about AADC deficiency by signing up

Talk to your doctor if you think your child should be tested for this rare disorder