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Spinal Muscular Atrophy: Avery's Bucket List Blog Raises Awareness Of The Disease, But What Is It?

Posted: 04/28/2012 3:50 pm Updated: 04/30/2012 12:14 pm

Spinal Muscular Atrophy

A newborn baby's battle with spinal muscular atrophy inspired her parents to start a bucket list blog.

HULIQ reports on Avery's Bucket List blog, a site that aims to spread awareness of Avery's illness, which progressively weakens muscle function. Avery's doctors told her parents that the five-month-old has 18 months to live.

"Imagine you've been diagnosed with an incurable genetic disease and you are told you will not only lose your ability to walk and move your arms, but you will die between now and the next 18 months. What would you do?" Avery's parents write in her voice on the blog.

But what exactly is this rare disease?

Spinal Muscular Atrophy occurs in three different types, according to the National Library of Medicine. The disease attacks nerve cells in the spine, Medline Plus explains, affecting voluntary muscle movement, like walking or crawling. "Infants with SMA type I are born with very little muscle tone, weak muscles, and feeding and breathing problems," the NLM notes.

It's a genetic disease that usually comes from a defective gene in both parents, according to the NLM. SMA affects 4 out of every 100,000 people.

A family history of neuromuscular disease, flaccid muscles and twitches of the tongue muscles could all be signs of the disease, which can also affect children.

There is no cure for the disease, but the SMA Foundation says "new therapeutics have entered clinical trials or are approaching trials in the near future."

To Learn more about SMA, visit the SMA Foundation.

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Filed by Simon McCormack  |