Muscle biopsies are performed in individuals who are suspected of having an inherited muscle disease (a muscular dystrophy) or an acquired muscle disease which is most often caused by inflammation of the muscle. For most patients, an open muscle biopsy is needed to get a large enough sample for detailed testing. This requires an outpatient procedure which is performed by a surgeon in our Ambulatory Care Center. In few patients, a needle muscle biopsy can be sufficient to get a sample and this procedure is performed in the Neuromuscular Disease Clinic.
Patients experiencing the following symptoms may need a muscle biopsy:
- Unexplained weakness or muscle pain
- Unexplained elevations in a muscle enzyme levels called creatine kinase (CK)
- Recurrent rhabdomyolysis (the destruction or degeneration of skeletal muscle tissue)
Chemical analysis of muscle often leads to a precise diagnosis of specific underlying muscular dystrophies and myopathies. Muscle is also an easily accessible tissue to help diagnose:
- Systemic vasculitis
- Mitochondrial disorders