Innehållsförteckning
Hur många har Retts syndrom?
Förekomst. Retts syndrom finns uppskattningsvis hos 10 per 100 000 flickor och kvinnor. I Sverige föds i genomsnitt 5-6 flickor varje år med syndromet och omkring 300 flickor och kvinnor har diagnosen i Sverige. Syndromet finns hos några få pojkar och män.
Vad är Rett syndrom?
Retts syndrom innebär svåra motoriska och intellektuella funktionsnedsättningar. Nästan alla med Retts syndrom är flickor och kvinnor. Till en början har flickor med syndromet inga symtom. Efter en tid får de svårt att koordinera sina rörelser.
What is Rett syndrome?
Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It’s related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. Between 3 months and 3 years of age, though, they stop developing and even lose some skills.
What are the symptoms of Rett syndrome at 3 months?
Babies with Rett syndrome seem to grow and develop normally at first. Between 3 months and 3 years of age, though, they stop developing and even lose some skills. Symptoms include. Loss of speech. Loss of hand movements such as grasping. Compulsive movements such as hand wringing. Balance problems. Breathing problems.
Is there any approved therapy for Rett syndrome?
Any approved therapy for Rett syndrome could be considered for compassionate use in males with MECP2 mutations. International Rett Syndrome Foundation is committed to continue to fund research that will impact quality of life for both boys and girls living with MECP2 mutations.
What is mosaicism in Rett syndrome?
Mosaicism as a cause of Rett syndrome in males: Mosaicism basically is a term defining a mixture of two different populations of cells. There have been very rare reports of males with Rett syndrome on the basis of mosaicism.