• Spinal Muscular Atrophy (SMA) is the # 1 genetic killer of children under Age 2
• 1 in 40 people carry the SMA Gene
• SMA kills more babies than any other genetic disease
• More than 21,000 children worldwide are born with SMA each year
• SMA can strike anyone of any age, race or gender
• The gene is carried by seven million potential parents, most unknowingly
• SMA is an autosomal recessive neurodegenerative disease characterized by the dramatic loss of spinal motor neurons, resulting in muscle weakness, atrophy, and in the worst cases, the loss of ability to swallow and breathe. The mind remains unaffected, while the muscles waste away
• SMA presents in a broad clinical spectrum and is classified into three types based on disease severity: type I, type II, and type III. Approximately 65% of all new SMA patients are type I severe or type I
• SMA occurs when a vital gene ("survivor motor neuron" gene or "SMN") is deleted or mutated, preventing the creation of a protein necessary for muscle strength. A second, nearly identical copy gene, SMN2, is present in all SMA patients. SMA disease severity correlates inversely with increased SMN2 gene copy number
• SMA is incurable, untreatable, fatal, and underfunded
