PTC Therapeutics and Invitae have partnered to provide PTC Pinpoint Neurotransmitter Disorders Program, a no-cost genetic testing, post-test genetic counseling, and family screening program for individuals of all ages who present with symptoms of neurotransmitter disorders, such as Aromatic L-amino Acid Decarboxylase (AADC) deficiency. One of the most common symptoms of AADC deficiency is involuntary eye movements called oculogyric crisis. These are moments when a child’s eyes suddenly roll upward or to the side involuntarily. In addition, backward and side bending of the neck, extension of the tongue, and jaw spasms occur with oculogyric crisis. These crises can last anywhere from a few seconds to hours and can happen several times a day or several times a week. When this happens, it can look like your child is having a seizure. Talk to your doctor about testing with PTC Pinpoint if your child is experiencing symptoms of AADC deficiency, like oculogyric crisis. Genetic counseling is available after testing to help you understand your child’s test results. Family testing is available as well for all blood relatives of individuals who undergo testing and are found to have a mutation or change in the gene, all at no cost. To learn more about PTC Pinpoint Neurotransmitter Disorders Program, please visit https://www.invitae.com/en/PTC-Pinpoint/. If you have any questions about the program, please email AADCpatientengagement@ptcbio.com. |
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