|
Mrs. Grana's Bio 4 |
|
Liz Geekie Bio 4
|
|
FAQ 1. What is the mode of inheritance?
-Canavan is inherited as an autosomal recessive trait
-Both parents are carriers of an altered gene on chromosome 17 that is responsible for synthesizing aspartoacylase
-A parent can be a healthy carrier because they have another unaltered gene that is functional
-The child will inherit 2 altered copies of the gene that is unable to produce aspartoacylase 2. What are the symptoms of Canavan?
-During infancy parents may notice:
visual inattentiveness, inability to perform motor tasks, low muscle tone, limited head control
- As child grows, mental functioning and motor skills deteriorate
- The child eventually becomes blind, hearing still sharp
- Stiffness, weakness of muscles, seizures, feeding problems are other symptoms that may become visible
- The presentation and progression of Canavan varies from child to child 3. Are there any
treaments or a cure?
-To date there is no cure or treatment available for Canavan
- However, several approaches are being explored:
a. gene therapy – functional aspartoacylase (ASPA) are introduced to child’s brain to increase the levels
for ASPA
b. introduction of functional neuronal stem cells into the brain to increase the number of neurons that make ASPA
c. medications to reduce amount of fluid and/or NAA in the brain 4. What is the lifespan of a person with Canavan?
- Lifespan: most die in infancy, however they can live through childhood and onto adulthood Our Mission Our mission is to educate people about Canavan disease. Our goal is to collect $35,000 to donate to the
research of Canavan treatments and to the relief of children effected with Canavan. If 1,000 people donate only $35,
we will have reached our goal! Any information regarding Canavan was found at: |