Anyone in the mito community has heard the line – “the muscle biopsy is the GOLD standard in mitochondrial diagnostics” – however, that is quickly changing. The problems with diagnosing mitochondrial disease is that it is an arduous process, many mitochondrial symptoms are misdiagnosed as other problems, and the main testing vehicle – the muscle biopsy – was invasive and expensive. Many labs have been working on this issue and there are new tests popping up in clinical trials, and hopefully in clinical practice, as we speak.
As a patient, or the parent of a patient, who is pursuing a mitochondrial diagnosis, however, the negatives associated with the muscle biopsy are a real problem today – and one that should take careful consideration. There are many things you should consider before undergoing a muscle biopsy – real concerns and issues.
Dr. Fran Kendall, of Virtual Medical Practice, has put together a great document to start with when faced with the decisions surrounding a muscle biopsy - Muscle Biospy FAQs . I found it to be very insightful and interesting, and to provide answers to so many questions that I would have wanted answered three years ago before my daughter’s muscle biopsy. I hope you find it just as helpful!