What is spinal muscular atrophy and is it hereditary? Which genes are mutated and in what ways are they mutated to cause this disease? Which genetic processes are affected by this mutation?

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?