Spinal Muscular Atrophy is an autosomal recessive genetic disorder that is inherited by having both parents carriers of the gene. The chances of the child of two carriers is 25% or 1 out of 4. Someone who has Spinal Muscular Atrophy have either a missing or mutated SM1 gene. This gene produces a protein called Survival Motor Neuron. Motor neurons are nerve cells in the spinal cord which send out nerve fibers to muscles throughout the body. Because this protein is necessary for survival, without it, nerve cells will stink and die over time and this causes muscle weakness. As children with SMA grow, their bodies become weak, fragile and stressed.
SMA can be diagnosed through a blood test, specifically looking for the presence or absence of the SM1 gene. Doctors may also request a muscle biopsy.
Currently there are no drugs to treat Spinal Muscular Atrophy but there has been over $17million invested into SMA drug development.
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