The Mitochondrial Medicine Society

Advancing education, research, and global collaboration in clinical mitochondrial medicine

The Basics

  1. Red Flag Symptoms
  2. Associated Symptoms
  3. Neuroimaging (article)
  4. MMS Global Networks (map-based listing of providers, support groups and research consortia)

Testing (links to articles open in a new window)

For up-to-date testing recommendations, please see the MMS Diagnosis Guidelines paper in Genetics in Medicine

  1. Initial testing
  2. What are abnormal results?
  3. Causes of lactic acidosis
  4. Muscle biopsies

MMS Papers (links to journal articles open in a new window)

  1. Practical Approach for the PCP - Pediatrics
  2. Diagnosis and Treatment of Mitochondrial Disease - MMS Consensus Criteria – Genetics in Medicine
  3. Preventative Care Guidelines for Primary Mitochondrial Disease - Genetics in Medicine
  4. Management of Stroke in MELAS - JAMA Neurology
  5. Outcomes after solid organ transplantation in Primary Mitochondrial Disease - Molecular Genetics & Metabolism
  6. Practice Patterns of Mitochondrial Medicine Physicians in North America – Part 1 – diagnostic and clinical care challenges - Mitochondrion
  7. Practice Patterns of Mitochondrial Medicine Physicians in North America – Part 2 – treatment and management concerns - Mitochondrion

              Older Publications (please  use the section above for up-to-date recommendations)

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

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

  1. MMS Consensus Criteria on Diagnosis and Treatment of Mitochondrial Disease – Genetics in Medicine
  2. Nijmegen Group Mitochondrial Disease Criteria (MDC)
  3. Bernier & Thorburn

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