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It's the second most common cause of intellectual disability after Down syndrome, and it afflicts one in 10,000 girls worldwide.
The disorder, called Rett syndrome, can cause intellectual impairment, gait abnormalities, repetitive hand movements, and loss of spoken language and fine motor skills, per a release from the Clinical Neurological Society of America.
It's currently the only genetic disorder known to affect more than one in 10,000 girls, reports the New York Times.
No cure is currently available, so treatment typically focuses on relieving symptoms.
But a drug recently approved by the FDA and two new gene therapy programs offer hope for those with Rett syndrome and their families, per the release.
"Long-awaited medical innovation is changing what the future could look like for Rett syndrome patients and their families," says the society's chair for neurology.
"We need to continue education so that more providers know what this disease looks like and how to advise families who are dealing with it."
A 2015 study found that the divorce rate for couples with a daughter with Rett syndrome was 9% higher than the rate of the general population, per the release.
The paper, authored by four neurologists, also calls for earlier diagnosis.
Most pediatricians and family physicians don't have any experience with Rett syndrome, and
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Caroline Diehl is a serial social entrepreneur in the impact media space. She is Executive Chair and Founder of the UK’s only charitable and co-operatively owned national broadcast television channel Together TV, the leading broadcaster for social change runs a national TV channel in the UK and digital platform which helps people find inspiration to do good in their lives and communities.
