Muscle and nerve biopsy in the evaluation of neuromuscular disorders: the surgeon's perspective

A muscle biopsy frequently is requested by the neurologist evaluating a child with neuromuscular symptoms. However, there are no reports discussing the preoperative evaluation for, and diagnostic yield of, this procedure. The authors reviewed our experience over a 10-year period to obtain these data.

The records of 153 patients who underwent muscle biopsy were reviewed with particular attention to the cardiology evaluation, the pathology report, and any resultant change in diagnosis and treatment of the child.

All 153 specimens contained adequate tissue for complete histological analysis. Preoperative cardiology consults were obtained in 82% of the children, with abnormalities found in 9%. Severe cardiac dysfunction was found in three children, all of whom had a previously diagnosed cardiomyopathy or dysrhythmia. No pathological abnormality was found in 41% of the muscle biopsy specimens, and nonspecific pathological findings were described in 23%. A specific diagnosis was made in 36%. Only 19% of the children had their treatment changed by the results of the muscle biopsy.

Muscle biopsies can be performed safely without routine preoperative cardiac evaluation. A specific diagnosis, however, may be made in less than half of the patients with a change in therapy available for even fewer.