Cerebral Palsy
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REVEAL -CP - Screening Study for People with Cerebral Palsy Symptoms

Richard_ScopeRichard_Scope Posts: 2,838

Scope community team

edited June 15 in Cerebral Palsy

WHEN YOUR CEREBRAL PALSY SYMPTOMS GO UNEXPLAINED, A RARE GENETIC DISORDER MAY BE THE CAUSE

For people diagnosed with cerebral palsy with no known cause or those with CP-like symptoms that look like cerebral palsy with no known reason, please consider this research study that may help identify if there is a rare underlying cause for your or your child’s disorder.

The REVEAL-CP study is hoping to understand how many people with symptoms that look like cerebral palsy, but with no known reason for these symptoms, may actually have Aromatic L-Amino Acid Decarboxylase deficiency (or AADC-d), a very rare genetic disorder that affects the brain, causes abnormal muscle tone and affects how a person develops. Many of the symptoms of AADC deficiency are similar to cerebral palsy symptoms. This is a screening research study- no medications or treatments are being offered. However, parents/patients may find out if AADC deficiency is the cause of their cerebral palsy symptoms. The study involves up to two blood tests.

Although there is currently no cure for AADC deficiency, early diagnosis can lead to better disease management. If you are interested in learning more about this screening study, please speak with your or your child’s physician or visit https://www.reveal-cp.co.uk/ for more information.


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Specialist Information Officer - Cerebral Palsy

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  • Richard_ScopeRichard_Scope Posts: 2,838

    Scope community team

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    Scope
    Specialist Information Officer - Cerebral Palsy

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