Spinal Muscular Atrophy Fact Sheet

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Fight SMA’s Mission

To strategically accelerate research toward treatment and cure for Spinal Muscular Atrophy (SMA), a deadly crippler and the number-one inherited genetic cause of infant death.

What is Spinal Muscular Atrophy?

  • Spinal Muscular Atrophy kills more babies than any other genetic disease.
  • SMA is incurable, untreatable, fatal, and underfunded.
  • 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 II.
  • 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.

What Is Fight SMA?

  • Fight SMA was formed in Richmond, Virginia in 1991 by Martha and Joe Slay whose son, Andrew was diagnosed with the disease. A 2008 graduate of the University of Virginia, Andrew continues to battle the effects of the disease.
  • Fight SMA has raised more than $7 million since it was founded, and in 2005 achieved a historical milestone by raising $1 million in a single year. More than 40 research institutions have received money from Fight SMA to support SMA research.
  • Fight SMA is incorporated as a non-stock corporation with a sixteen-member Board of Directors. There are now 19 chapters and affiliates in the U.S. and Canada, with new chapters forming each year.

Do People Know About Spinal Muscular Atrophy?

  • Fight SMA is working to raise awareness so that more people will join the fight.
  • Since its creation in 1991, Fight SMA has brought attention to the disease, winning praise from the White House, Congress, and the National Institutes of Health (NIH).
  • Fight SMA has received coverage from NBC’s Today Show, the Associated Press, USA Today, The New York Times, CNN’s Wolf Blitzer Reports, Southern Living Magazine, Roll Call, Parents Magazine, and many local media outlets.

What is the Status of SMA Research?

  • The SMN1 gene that causes SMA and the copy gene SMN2 have been identified.
  • SMA has been chosen by the NIH to be a model for translational research because it is the closest to a treatment or cure out of all 300 neurological disorders.
  • SMA genetic research in the “Genomic Modulation of Inherited Genetic Diseases” project may provide novel insights into potential ways to treat SMA and 40 plus similar diseases:
    • Tay-Sachs Sandhoff
    • Parkinsons
    • Alzheimers
    • Friedreich’s Ataxia
    • Spinocerebellar Ataxia Type 1
    • Spinocerebellar Ataxia Type 2/Episodic Ataxia Type 2
    • Spinocerebellar Ataxia Type 6/Spinocerebellar Ataxia Type 7
    • Deafness/Dystonia
    • Myotonic Dystrophy
    • Duchenne Muscular Dystrophy
    • Late Infantile Metachromatic Leukodystrophy
    • Late Infantile Neuronal Ceroid Lipofuscinosis
    • X-Linked Adreno-Leukodystrophy
    • Menkes
    • Types A and B Niemann-Pick Disease
    • Fragile X
    • Machado-Joseph
    • GM2A
    • Gaucher Disease
    • Sialidosis and Galactosialidosis
    • Infantile and Late-Onset forms of Neuronal Ceroid Lipofuscinosis
    • Classic Late Infantile Neuronal Ceroid Lipofuscinosis

How Can You Help Fight Spinal Muscular Atrophy?

If you would like to speak directly with someone at FightSMA please call 703-299-1144 or use our contact form.