Spring fundraising appeals for Rett syndrome causes have been turning up in the inbox and the Facebook feed, as they do every year at this time. Girl Power 2 Cure, a worthy organization, says there’s still time for us to “give a dollar a day in May.” The…
Discussion
Before our late daughter, Cammy, was diagnosed with Rett syndrome shortly before her second birthday, she was already receiving services through our state’s early intervention program. For 10 months — from 12 months old to 22 months old — her days were filled with appointments for physical therapy,…
Abnormally high activity of the MECP2 gene can profoundly disrupt immature brain cells during early development, but appears to have only modest effects in mature nerve cells, according to a new study. The findings may have important implications for the development of gene therapies for Rett syndrome, which is…
Families of girls and young women with Rett syndrome reported reduced overall quality of life, with emotional well-being emerging as the most affected area, according to a study from Brazil. Better family quality of life was associated with higher income, private health insurance, regular school attendance, and the absence…
Rett syndrome is a rare genetic disorder that mostly affects females. The disease is characterized by normal early development, followed by slowed growth and a loss of motor control. Learn more about the disease here.
Most cases are caused by a mutation in the MECP2 gene. Scientists have identified mutations in CDKL5 and FOXG1 genes in those who have atypical or congenital Rett. Learn more about what causes the disease here.
Rett syndrome is associated with problems in cognitive, sensory, emotional, and motor skills, and across the nervous system that controls involuntary (or autonomic) functions. Learn more about the symptoms of the disease here.
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