Treatments
Is there a cure for rett syndrome
no
what are the two main physical impacts most patients develop
- Loss of motor skills
- Unusual repetitive movements (clapping, rubbing)
- Weak muscle control
How many types of rett syndrome are there?
2
What is used to treat seizures?
Medication / Drugs (AEDs)
What causes patients to develop social anxiety and loss of social interaction?
- loss of language abilities
- speech problems
- no ability to communicate (loss of speech and hand movements)
how long do babies develop normally until symptoms start?
the first 6 months of life
List 3 types of therapies to treat rett syndrome symptoms
- physical therapy
- occupational therapy
- speech-language therapy
What gene is the mutation on? How does the mutation effect the it?
gene: MECP2
the MECP2 gene controls protein needed for brain development the mutation can alter the structure of the protein or can reduce the amount of protein.
List the 5 different kinds of atypical rett syndrome
- congenital rett syndrome (rolando variant)
- early -onset rett syndrome (hanefeld variant)
- Late-childhood rett syndrome
- Forme fruste rett syndrome
- Preserved speech variant of rett syndrome (zappella variant)