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Assignment #9: Genetics in Special Education: Gaucher Disease (Treatment…
Assignment #9: Genetics in Special Education: Gaucher Disease
Signs/Symptoms
Type 1:
Bone disease
Hepatosphlenomegaly
Anemia
Thrombocytopenia
Lung disease
Type 2:
All symptoms of type 1
Seizures
Eye problems
Brain damage
Severe medical problems begin in infancy.
Usually do not live past age 2, several can die in infancy
Severe skin problems
Excessive fluid accumulation
Type 3
All symptoms of type 1 and type 2
May have symptoms before they are two years old
Slowing of horizontal eye movements
Often have a more slowly progressive disease process and the extent of brain involvement is quite variable
Treatment
Enzyme replacement therapy is now available as an effective treatment for individuals who have symptoms
Oral treatment therapies are in various stages of development
Removal of spleen
Blood transfusions
Pain medications
Joint replacement surgery
Genetics
Inherited in families in an autosomal recessive manner
Inherits two altered genes from each parent
Carrier: when you carry 1 altered gene
Carriers have: 25% chance their baby will be affected, 50% chance their baby will be a carrier, and a 25% chance they will neither be affected nor a carrier
Diagnosis
Based on clinical symptoms and laboratory testing
Why test?: individuals who have bone problems, enlarge liver and spleens, changes in red blood cell levels, easy bleeding/bruising, signs of nervous system problems
Blood test to measure the activity level of the enzyme glucocerebrosidase- will have very low levels of this enzyme activity
DNA testing can identify carriers, but not possible to predict patient's clinical course
DNA analysis of GBA gene for a mutation- can be done prenatally
