Muscle Biopsy

Dr Fran Kendall with VMP Genetics shares her insights and information on muscle biopsy for Mitochondrial Disease.

A muscle biopsy is an invasive and costly procedure. Requiring a muscle biopsy for you/your child to determine if a mitochondrial or other metabolic muscle disease is a cause for you/your child's problems can be a hectic, frustrating, and stressful time often without a sense of control. We wish to change that.

We believe that information empowers patients and it is our hope that our Muscle Biopsy document that you can download to the side will encourage you to ask questions so you can determine if a biopsy or the approach to a biopsy is appropriate to your situation, the significance of a biopsy, its utility to your unique situation, and what to be mindful of during the process.




In medicine, a myopathy is a muscular disease in which the muscle fibers do not function for any one of many reasons, resulting in muscular weakness. "Myopathy" simply means muscle disease (myo- Greek μυο "muscle" + pathos -pathy Greek "suffering"). This meaning implies that the primary defect is within the muscle, as opposed to the nerves ("neuropathies" or "neurogenic" disorders) or elsewhere (e.g., the brain etc.). Muscle cramps, stiffness, and spasm can also be associated with myopathy.