Tag: Spinal Muscular Atrophy

August Is Spinal Muscular Atrophy Awareness Month!

August is SMA Awareness Month!! Spinal Muscular Atrophy, or SMA, is a disease that most people don’t know about. SMA is a motor neuron disease. It refers to a group of inherited diseases of the motor nerves that cause muscle weakness and atrophy (wasting).The motor neurons affect the voluntary muscles that are used for activities such as crawling, walking, head and neck control, and swallowing. It is a relatively common “rare disorder”: approximately 1 in 6000 babies born are affected and about 1 in 40 people are genetic carriers. In a person with mutated genes, this protein is absent or significantly decreased, and causes severe problems for motor neurons. Motor neurons are nerve cells in the spinal cord which send out nerve fibers to muscles throughout the body. Since SMN protein is critical to the survival and health of motor neurons, nerve cells may shrink and eventually die without this protein, resulting in muscle weakness. As a child with SMA grows, it is difficult for his/her weakened muscles to keep up with the demands of daily activities. The resulting weakness can also lead to bone and spine changes that may cause breathing problems and further loss of function.

SMA affects muscles throughout the body. In the most common types, weakness in the legs is generally greater than in the arms. Sometimes feeding, swallowing, and respiratory function (e.g., breathing, coughing, and clearing secretions) can be affected. When the muscles used for breathing and coughing are affected and weakened, this can lead to an increased risk for pneumonia and other respiratory infections, as well as breathing difficulty during sleep. The brain’s cognitive functions and the ability to feel objects and pain are not affected. People with SMA are generally grouped into one of four types (I, II, III, IV) based on their highest level of motor function or ability.

Here are some Spinal Muscular Atrophy facts (according to the Families of SMA organization):

  • One in every 6,000 babies is born with SMA
  • SMA can strike anyone of any age, race or gender
  • One in every 40 people carries the gene that causes SMA
  • The child of two carriers has a one in four chance of developing SMA
  • 7.5 million Americans are carriers
  • SMA does not affect sensation and intellectual activity in patients. It commonly is observed that patients with SMA are unusually bright and sociable

Read one mother’s journey about life with Spinal Muscular Atrophy – the ‘Tiffany Moore’s story’. Click here to find out how she dealt with amazing twin sons who were born with SMA. Learn about their personal story & the challenges they faced. You can also support the #MoreForMoore campaign by purchasing the Moore Campaign T-shirt and raise awareness for SMA!

So how can YOU make more people aware of SMA? Here are three great ideas:

1) Tell everyone

This idea has the benefit of not costing a thing. If you have a child with SMA or you have SMA yourself, you probably find that people are curious (to say the least). Don’t ignore them … teach them. Tell them about the disease and what it does, then tell them about this website and how they can help.

2) Donate

Fighting a killer takes money, and while we understand that times are tight and it costs a lot to care for someone with SMA, a donation of any amount can help. Your gift to FightSMA will fund life-saving science and research, and also makes possible programs offering support to families battling SMA.  Click here to donate.

3) Lobby your legislator

The National Pediatric Research Nework Act will soon be up for a vote in the U.S. Senate. This legislation would drastically improve our ability to find a treatment for SMA and could make finding a cure a reality. Click here to read help with how to contact your senator.

Unfortunately, at this time there is no cure for SMA. However, research aimed at finding a treatment or cure for SMA is moving rapidly forward. Much of this research is focused on SMN2, a gene that partially compensates for the function of the gene (SMN1) that, when mutated (abnormal), is the cause of most cases of SMA.

Thanks to the support of our community, there’s great reason for hope. We know what causes SMA and what we need to do to develop effective therapies, and we’re on the verge of major breakthroughs that will strengthen our children’s bodies, extend life, and eventually lead to a cure.

 

SMA 2

* If you know someone who has been recently diagnosed with SMA please e-mail infopack@fsma.org to request a free informational packet. For more information, visit any of the following organizations: