Spinal Muscular Atrophy

1. What is Spinal Muscular Atrophy, and is it hereditary?

2. Where do the genetic mutations occur and which genes are affected? (Primary focus, eg. Chromosome 15)

3. Which genetic processes are affected? (Primary focus, eg. Motor Neuron function)

4. Discuss the different types and which genetic mutation occurs in each and how:
SMA type 0 (prenatal SMA)
SMA type 1 (infantile SMA, Werdnig-Hoffmann disease)
SMA type 2 (intermediate SMA, Dubowitz disease)
SMA type 3 (juvenile SMA, Kugelberg-Welander disease)
SMA type 4 (late onset SMA)

5. Is this disease Treatable and which medication is used?

6. How are these medications used to restore the genetic processes?

7. What is the life expectancy?