focus on the genetic mutations that cause Spinal Muscular Atrophy.
– What is spinal muscular atrophy and is it hereditary?
– Which genes are mutated and in what ways are they mutated to cause this disease? (Primary focus, eg Chromosome 15)
– Which genetic processes are affected by this mutation? (Primary focus, eg Motor neuron process)
– What is the life expectancy?
– Discuss the different types and the different genetic mutations in each type:
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)
– Is it a treatable disease and which medications would be used to treat this condition?
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