Spinal Muscular Atrophy (SMA)

Biology Research Project

Introduction

I chose to do my project on SMA is because I have been around someone with it. Some of my family's close friends had a son born with SMA. I have saw how it affects him and those around him. He is only four years old and he is already being affected by it tremendously. He has already lost his ability to walk, and now he is slowly losing the ability to sit up by himself. I want to learn more about SMA and why it does the things it does. I believe that if more people became aware of this disease, there could be a cure one day.

Definition of the Disorder

SMA is a disease that affects the motor nerve cells in the spinal cord, affecting the ability to walk, eat, or even breathe. It is the number one genetic cause of death for infants. SMA is caused by a mutation in the survival motor neuron gene 1.
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Symptoms of SMA

There are four types of SMA. Symptoms of type 1 may be present at birth or within the first few months of life. These infants usually have difficulty breathing and swallowing, and they are unable to sit without support. Children with type II SMA usually develop muscle weakness between ages 12 months to 6 years old. They cannot stand or walk without help. SMA type 3 can begin as early as the toddler years or as late as adolescence. Children can stand alone and walk, but may have difficulty getting up from a sitting position. Their fingers may tremble. Children with SMA Type III usually remain mobile well into adulthood. Like children with Type II, they are at an increased risk for respiratory infections. Some children may start out with the ability to walk, but will lose it, along with other abilities over time. is the adult form of the disorder. Most people affected by this type start having symptoms after age 35, and these symptoms slowly get worse over time. Because it develops slowly, many people with type IV SMA don't know that they have it until years after symptoms begin.

Introduction to Spinal Muscular Atrophy

Cause of the Disorder

SMA is characterized by loss of nerve cells in the spinal cord called motor neurons. The most common form of SMA is caused by a defect, or mutation, in the SMN1 gene on chromosome 5. A mutation in the gene leads to a deficiency of a motor neuron protein called SMN, for survival of motor neuron.
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How the Disorder is Treated

There is no known cure for SMA currently. Doctors have found that there are ways to slow the process of SMA. Physical Therapy and Exercise is very effective in slowing the process of SMA. Along with assistive equipment and good nutrition, with all the right stuff, a child suffering with SMA can live a some-what easier life.

How SMA is Diagnosed

To make a diagnosis of SMA, symptoms need to be present. When symptoms are present, diagnosis can be made by genetic testing. Gene alterations (mutations) in the SMN1 and VAPB genes cause SMA. Having extra copies of the SMN2 gene can modify the course of SMA.
Stella: An SMA Story

What Type of People are Likely to Have SMA?

SMA is commonly found is young children. It can show up in the first year of their life, up into their childhood years. One in 6,000 children are diagnosed with SMA. One in 40 people carry the gene for SMA, but most are unaware.

Children With SMA

Application of Research

During this project, I learned how SMA is inherited and how it is caused. I learned that SMA is a mutation in the SMN1 gene. I learned that 1 in 40 people carry the gene for SMA, but most are unaware of their family background and history. One in every 6,000 children will be diagnosed with SMA. I learned that there is no cure for this disease, but with physical therapy and careful monitoring, this disease's effects can be slowed down. With a positive attitude and effort, children with SMA can go on to live happy lives.