Mitochondrial Medicine Society

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Diagnosis Toolkit

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The Basics

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

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

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

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

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

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

  1. Mitoland: A Handbook for Patients and Parents
  2. Mitochondrial Myths for Physicians
  3. Mitochondrial Myths for Patients & Families

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