Spinal Muscular Atrophy

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?

*And any other relevant Information.