Parents and physical therapists caring for people with Rett syndrome named gross motor skills and musculoskeletal function as the main physical therapy priorities to support body stability and movement, according to a study. The Dutch study, which used questionnaires and interviews, also described factors that help or hinder physical…
Discussion
New Hampshire has its 4,000-Foot Challenge: Climb all 48 of the mountains in the White Mountain National Forest that are at least 4,000 feet high. Colorado has the 14ers Challenge: Climb all of the state’s peaks that rise at least 14,000 feet, of which there are…
Discussion
Earlier this month, I was invited to be a guest on “The Purple Couch,” a podcast sponsored by the International Rett Syndrome Foundation dedicated to all things Rett syndrome, to share how I made Halloween more inclusive for my late daughter, Cammy. Purple is the color associated with…
Discussion
NGN-401, an experimental gene therapy for Rett syndrome, acts quickly in the nervous system to increase levels of the critical protein MeCP2, which is missing or defective in patients, according to new preclinical data. The therapy, developed by Neurogene, is currently in late-stage clinical trials. “We found that NGN-401’s…
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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