Spinal Muscular Atrophy

SMA

What is SMA?

SMA is a gene mutated in such a way that it is unable to correctly code the SMN protein. SMN1 gene is located on chromosome 5. People who are affected by SMA are unable to normally walk and do activities on their own, while all of their muscles are always weak. 1 in 40 people carry the gene that causes SMA.

Characteristics of SMA

Life isn't easy

Life isn't easy for people who have SMA, they have to go each day not feeling strong enough to do anything. Not being able to walk without leg braces or a chair. Symptoms of SMA are physically noticeable like, bell shape torso, unusual weight and muscle weakness being unable to do many activities without help. Daily life for children aren't very easy either. Having someone always by the side of you making sure you don't fall and always being weak, not being able to run and play games with other kids. The life expectancy is different for every different case of SMA. Most children are expected to never walk, but most end up walking sometime in life. Because of their weak muscles to support their bones, most people with SMA will develop scoliosis and later die from that.

Cause of SMA

Survival of Motor Neuron

In SMA, chromosome 5 is effected. The gene is unable to code the SMN protein correctly. 7.5 million Americans are carriers of SMA. 1 in 40 parents carry the gene to create SMA or MDA.

Treatment

  • There is no current cure to SMA. But there are some treatments to kids who have the spinal disease.
  • Failure to thrive: infants might have trouble getting the nutrition they need and will require feeding with Naso-gastric tubes.
  • Weak arms/legs: many braces and walkers are made to help them walk.
  • Orthopedic: scoliosis occurs at some point in life. Body jackets and surgery may prevent or are needed when found.

Other Facts

  • 1 in 6,000 babies are born with SMA.
  • SMA can strike anyone. Any race, age and gender.
  • SMA stands for spinal muscular atrophy. SMA is a group of inherited diseases that cuss muscle damage and weakness.
  • Most people with SMA usually die when they are older in age.