Spinal Muscular Atrophy – Diagnosis & Treatments

3Biopsy

The biopsy is another option to diagnose spinal muscular atrophy. The doctor can take a sample of the spinal cord, muscle, or nerve to find out abnormalities in the condition. More specifically, a biopsy of the spine’s anterior horn can indicate serious problems with the motor neuron cells. A nerve biopsy could suggest symptoms of nerve degeneration. And a muscle biopsy might show signs of muscle shrinkage. However, they are not often necessary because the procedure is invasive with results that are not always helpful in ruling out or confirming spinal muscular atrophy. Genetic testing is more reliable and not invasive. [3]

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