- Q Can Rett syndrome be prevented?
Today, the answer is no. In nearly all cases, a spontaneous mutation of the MECP2 gene causes Rett syndrome. Because there is no apparent cause for this mutation, there is no known way to prevent it. Prevention is not possible currently, but research is... Full Answer
- Q How is Rett syndrome diagnosed?
Doctors clinically diagnose Rett syndrome by observing signs and symptoms during the child's early growth and development and by conducting ongoing evaluations of the child's physical and neurological status. Scientists have developed a genetic test to... Full Answer
- Q What are the various causes of Rett syndrome?
Nearly all cases of Rett syndrome are caused by a mutation in the methyl CpG binding protein 2 (MECP2) (pronounced as meck-pea-two) gene. Scientists identified this gene-which is believed to control the functions of many other genes-in 1999. The MECP2... Full Answer
- Q What is Rett syndrome?
Rett syndrome is an uncommon though serious genetic disorder that typically occurs only in girls. This syndrome is part of the group of disorders known as autism spectrum disorders. After months of seemingly normal development, symptoms of Rett syndrome... Full Answer
- Q What are the treatments for Niemann-Pick (NP) disease?
There is currently no effective treatment for Type A Niemann-Pick (NP) disease. Bone marrow transplantation has been attempted in a few patients with Type B NP disease, and encouraging results have been reported. The development of enzyme replacement and... Full Answer
- Q What is Niemann-Pick (NP) disease?
Niemann-Pick (NP) disease refers to a group of inherited metabolic disorders known as the leukodystrophies or lipid storage diseases in which harmful quantities of a fatty substance (lipids) accumulate in the spleen, liver, lungs, bone marrow, and the... Full Answer