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Myopathy

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.

Muscle Biopsy

A muscle biopsy is an invasive and costly procedure. Requiring a muscle biopsy for you/your child to determine 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 below 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.

 

Click here to for a 50 minute MP3 file on Dr Kendall presenting and discussing muscle biopsies during MitoAction.org's monthly family phone conference.

 

Click here for Dr Kendall presenting and discussing muscle biopsies during MitoAction.org's monthly family phone conference.

 

Click here to jump to MitoAction's page on Testing For Mitochondrial Disorders and on muscle biopsy that Dr Kendall authored.

 

Click here to download "Muscle Biopsy for mitochondrial and metabolic disorders Frequently Asked Questions" as a PDF document

Some of the topics covered in the 15 page document are:

  • Costs and how to minimize expense
  • Fresh vs frozen biopsy
  • Shotgun vs stepwise approach to testing
  • Conflicts of interest
  • What to expect from a biopsy report
  • Controlling and safeguarding your genetic material
  • What to expect and who does what

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