What is SMA
 

Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disease characterized by muscle atrophy and weakness. The disease generally manifests early in life and is the leading genetic cause of death in infants and toddlers.

 

The disease destroys motor neurons of the spinal cord and brain stem. These nerve cells deliver electrical and chemical signals to voluntary muscles, which are used for crawling, walking, head and neck control, swallowing, and even breathing. 

Involuntary muscles,
hearing, vision, and intelligence are not affected. It has been noted that most children with SMA are very bright, interactive and socially gifted.

 

1 of 40 people are carriers of the SMA gene.  SMA carriers do not exhibit SMA symptoms, but do carry a defective copy of the SMN1 gene. If both parents are carriers of the SMA gene, then each of their children has a 1 in 4 chance of having the disease.

 

1 in every 6,000 children are born with the disease.  SMA is believed to affect as many as 10,000 to 25,000 children and adults in the United States.

 

SMA does not discriminate.  It affects all ages, sex, race and ethnic background.

 

There are four primary types of SMA -  I, II, III, and IV - based on age of onset and highest physical milestone achieved.  The most severe form is Type 1 (Werdnig Hoffmann).  The onset is before birth or up to 6 months of age. The child may never sit or stand. Respiratory and swallowing problems are their biggest threat. Quivering of the tongue is often noticed. Patients with milder forms of SMA may not have symptoms of muscle weakness until much later in childhood or even as adults

 

There’s great reason for hope. We now have the first-ever approved treatment that targets the underlying genetics of SMA. But our work is not done.  Research is at the verge of further breakthroughs that will eventually lead to a CURE.

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Richmond Hill, Georgia  31324

Email:  smacharity@aol.com

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