They may have undergone blood tests, genetic tests and electrodiagnostic studies studies, which measure electrical signals in the nerves and muscles.
But when the results of these tests are inconclusive, the next step may be a nerve or muscle biopsy. Such biopsies often provide the clues that finally allow doctors to make a diagnosis—and allow patients to begin treatment.
Dr. Winfree specializes in these biopsies. They are small, outpatient procedures, which means there is no need for patients to stay in the hospital. Instead, patients are typically sedated: awake, but given medicine that promotes a relaxed, drowsy feeling. After receiving sedation, patients receive injections that numb the skin in the area of biopsy.
Common areas for biopsy include the thigh, shoulder or calf. Dr. Winfree chooses the best area for each patient’s specific needs: some sites are best for the biopsy of a nerve only or a muscle only, while some sites are especially well-suited for taking biopsies of both tissues. If a patient’s condition affects only certain areas of the body, Dr. Winfree chooses a biopsy site from the affected area.
To take a biopsy, Dr. Winfree makes an incision in the skin that is one to two centimeters long. He locates and removes a small piece of the target muscle or nerve. Then he injects more anesthetic into the muscle, closes the incision with sutures (stitches), and places an ice pack alongside the incision. The patient goes home with just oral pain medicine.
Meanwhile, the pathologists’ work has begun. These doctors collect the biopsy sample from the operating room as soon as it is removed and bring it to the lab. In a type of examination called histology, pathologists examine the tissues’ features. They look at part of the biopsy sample under an incredibly high-powered microscope called an electron microscope.
Depending on the patient’s possible diagnosis, they may use other parts of the biopsy sample to run tests that reveal information about the cells’ chemistry and metabolism.
About two weeks after the biopsy, Dr. Winfree meets with the patient again, pathologists’ report in hand. Depending on the condition, the biopsy may have helped make a diagnosis of a myopathy (muscle disease) or neuropathy (nerve disease). Once they have been diagnosed correctly, these diseases can be treated properly.
In a recent guide to muscle and nerve biopsies for neurosurgeons, Dr. Winfree explains that although molecular genetic studies are now used to diagnose certain conditions that were once diagnosed with biopsy, “[f]or…diseases of muscles and nerve that require tissue diagnosis, the muscle and nerve biopsies will remain an indispensable tool.”
In many cases, these very close looks at nerves and muscles are just what the doctor ordered.
Image credit: © [Henry Vandyke Carter (1831-1897)] /Public Domain
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