Diagnosis & Resource Toolkit
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The Basics
The Testing
- Initial testing
- What are abnormal results?
- When testing is normal
- The Many Causes of Lactic Acidosis
- What to do with muscle (article)
- Genetic Testing (Baylor Genetics Algorithm in pdf format, under the resources tab on their website)
Our Guidelines (links to journal articles open in a new window)
- Practical Approach for the PCP
- 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
Articles of Interest (links to journal articles open in a new window)
- Annual Review of Mitochondrial Disease by Dr.s DiMauro and Schon
- An entire issue of Developmental Disabilities Research Reviews with articles on Mitochondrial Disease
- On mitochondrial dysfunction in select patients with depression – a thesis by Dr. Ann Gardner
Diagnostic Criteria (links to journal articles open in a new window)
Treatment (links open in a new window)
- A modern approach to the treatment of mitochondrial disease
- Illness management table referenced in treatment article
Parent/Patient/Physician Handouts (links to pdf’s open in a new window)
- Mito 101: A Diagnosis and Treatment Guide for Patients and Physicians
- Mitoland: A Handbook for Patients and Parents
- Mitochondrial Myths for Physicians
- Mitochondrial Myths for Patients & Families

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