What is atypical Rett syndrome?
What is atypical Rett syndrome? Atypical Rett syndrome is a neurodevelopmental disorder that is diagnosed when a child has some of the symptoms of Rett syndrome but does not meet all the diagnostic criteria. Like the classic form of Rett syndrome, atypical Rett syndrome mostly affects girls.
What mutation causes atypical Rett syndrome?
Most Rett syndrome cases are caused by identifiable mutations of the MECP2 gene on the X chromosome and can present with a wide range of disability ranging from mild to severe.
What is ppm diagnosis?
Primary-progressive multiple sclerosis (PPMS) is a form of the disease that is characterized from the beginning of the disease as a progressively worsening condition.
What causes Rett syndrome?
Almost all cases of Rett syndrome are caused by a mutation (a change in the DNA) in the MECP2 gene, which is found on the X chromosome (one of the sex chromosomes). The MECP2 gene contains instructions for producing a particular protein (MeCP2), which is needed for brain development.
Why do only girls get Rett syndrome?
Why is Rett syndrome usually only found in girls? Females have two copies of the X chromosome and males have one X and one Y chromosome. The MECP2 gene is found on the X chromosome, so females born with one normal and one changed copy of the MECP2 gene usually develop the symptoms of Rett syndrome.
What ppm means?
parts per million
This is an abbreviation for “parts per million” and it also can be expressed as milligrams per liter (mg/L). This measurement is the mass of a chemical or contaminate per unit volume of water. Seeing ppm or mg/L on a lab report means the same thing. This procedure would produce an ink concentration of 1 ppm.
What does ppm mean in medical?
Permanent Pacemaker
A Permanent Pacemaker (PPM) is an implantable device used for long-term treatment of arrhythmias with slow heart rate.