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Diagnosing spinal muscular atrophy

Spinal muscular atrophy is a spinal cord related health condition which mostly affects children.

Written by Editorial Team | Published : May 26, 2019 1:10 PM IST

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Spinal Muscular Atrophy

Spinal muscular atrophy is a spinal cord related health condition which mostly affects children. During this condition, the nerve cells in the brain and spinal cord break. This stops your brain from sending messages that control muscle movement. This leads to weak and shrunken muscles, trouble controlling head movement, walking, and sitting without help. As the disease progresses, it can also result in trouble swallowing and breathing. Spinal muscular atrophy is a genetic disease the occurs when your child receives two copies of a broken gene, one from each parent. This stops his body to make a specific kind of protein, without which, the cells that control muscles die. Getting just one faulty gene makes your child a carrier of spinal muscular atrophy. This condition is characterised by symptoms like floppy arms and legs, difficulties in supporting head or sit without help, problem in breathing, swallowing etc. Sadly, this disease is non-curable. But, certain drugs and methods can help your child manage the symptoms. As far as its diagnosis is concerned, there are basically four ways to know about the disease. Read on to know about them.

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CT Scan

CT scan: This test involves a powerful X-ray machine that makes detailed pictures of the inside of your child's body.

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Muscle Tissue Biopsy

Muscle tissue biopsy. During this test, a doctor removes cells through a needle in the muscle or through a small cut in your child's skin to view them microscopically.