The Mitochondrial Medicine Society

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Diagnosis & Resource Toolkit

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The Basics

  1. Red Flag Symptoms
  2. Associated Symptoms
  3. Neuroimaging (article)
  4. Genetics (article)
  5. Providers (listing)

The Testing

  1. Initial testing
  2. What are abnormal results?
  3. When testing is normal
  4. The Many Causes of Lactic Acidosis
  5. What to do with muscle (article)
  6. Genetic Testing (Baylor Genetics Algorithm in pdf format)

Our Guidelines (links to journal articles open in a new window)

  1. Practical Approach for the PCP
  2. The In-Depth Evaluation including how to interpret metabolic studies, tissue testing, what to send on the muscle biopsy and how to begin a genetic evaluation
  3. Annual Review of Mitochondrial Disease by Dr.s DiMauro and Schon

Diagnostic Criteria (links to journal articles open in a new window)

  1. Nijmegen Group Mitochondrial Disease Criteria (MDC)
  2. Bernier & Thorburn

Treatment (links open in a new window)

  1. A modern approach to the treatment of mitochondrial disease
  2. Illness management table referenced in treatment article

Parent/Patient/Physician Handouts (links to pdf’s open in a new window)

  1. Mito 101: A Diagnosis and Treatment Guide for Patients and Physicians
  2. Mitoland: A Handbook for Patients and Parents
  3. Mitochondrial Myths for Physicians
  4. Mitochondrial Myths for Patients & Families

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