Spinal Muscular Atrophy

What is Spinal Muscular Atrophy?

Spinal muscular atrophy is a genetic disease that attacks nerve cells, called motor neurons, in the spinal cord. These cells communicate with your voluntary muscles - the ones you can control, like in your arms and legs. As the neurons die, the muscles weaken. This can affect walking, crawling, breathing, swallowing, and head and neck control.

Symptoms

Symptoms in an infant:
Symptoms in a child:

Causes

Spinal muscular atrophy is a disease that is passed down through families. If your child has spinal muscular atrophy, it"s because he"s got two copies of a broken gene, one from each parent. 

When this happens, his body won"t be able to make a specific kind of protein. Without it, the cells that control muscles die.

If your child gets a faulty gene from just one of you, he won"t get spinal muscular atrophy but will be a carrier of the disease. When your child grows up he could pass the broken gene to his child.

Diagnosis

If you or your child has typical symptoms of SMA, a genetic blood test can be done to confirm the condition. You may also be asked if anyone in your family has a condition that affect the nerves and muscles in your family. A physical examination may be done to look for signs of SMA or similar conditions.

Very occasionally, other tests may be needed, too.

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