What is Spinal Muscular Atrophy?
Spinal Muscular Atrophy (also known as SMA) is a genetic disease that affects the nervous system. It is the loss of nerve cells called motor neurons in the spinal cord that makes it difficult for the cells that control your muscles to work properly. Atrophy means your muscles get smaller, so your muscles become weakened with this disease due to lack of movement.
SMA is caused by a gene malfunction or mutation. It is caused by a mutation on your chromosome that makes it difficult for your nerve cells to produce the amount of the protein that allows you to properly move all of your muscles
SMA can be diagnosed at birth or any time during a person’s life. If diagnosed at birth, children may not be able to learn to walk properly and will require assistance. If found later, people may lose the ability to perform these motor skills and some may no longer be able to walk
Symptoms of SMA may include:
- Muscle weakness (most likely muscles near your shoulders, hips, thighs, and upper back)
- Decreased reflexes/reaction time
- Curving in the back or spine (scoliosis)
- Muscle aches and/or stiffness
Obesity and being overweight is a concern when it comes to SMA because excess weight makes muscle weakness worse
Those with SMA need to watch their diet and keep foods high in fat and sodium to a minimum.
Those with SMA should do as much physical activity as they are comfortable with. Activity helps maintain range of motion and protects those with SMA from excess muscle stiffness.
Physical therapy can help children and adults with SMA with daily regular activities. It can help those with limited muscular strength find the best ways to perform everyday movements.
There are issues created by this disease that require special treatment methods due to muscle weakness throughout the body
When respiratory muscles weaken, air has trouble moving in and out of your lungs. There are portable ventilation devices that help with breathing issues, such as the use of oxygen masks.
Swallowing muscles can also be affected by this disease. In severe cases, people with SMA may need to use feeding tubes for nutrition if they cannot properly chew and swallow food.
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