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Mitochondrial disease resources

Information

Further information about mitochondrial disease can be found at the website for the United Mitochondrial Disease Foundation : www.umdf.org/

Diagnostic referral centers

Referral centers in the United States that perform fresh muscle biopsy diagnostics include:

San Diego, California

University of California, San Diego
Robert Naviaux, MD, PhD and Richard H. Haas, MB, BChir., MRCP
UCSD Mitochondrial Disease Laboratory
214 Dickinson Street
San Diego, CA 92103
Phone: 619-543-3826
Fax: 619-543-7858

Cleveland, Ohio

Cleveland Clinic/CIDEM
Bruce H. Cohen, MD and Charles L. Hoppel, MD
Cleveland Clinic Foundation
Pediatric Neurology, S80
9500 Euclid Ave.
Cleveland, OH 44195

Center for Inherited Disorders of Energy Metabolism (CIDEM)

Rainbow Babies and Children’s Hospital, Room 4010
11100 Euclid Avenue
Cleveland, OH 44106
Phone: 216-844-1286
Fax: 216-844-8005

By Russell P. Saneto, D.O., Ph.D., Children’s Hospital and Regional Medical Center/University of Washington School of Medicine, Seattle, WA.

Topic Editor: Russell P. Saneto, D.O., Ph.D. Last Reviewed:6/24/04


This content is user-generated. Content is not monitored nor consistently reviewed by the epilepsy.com Editorial Board. Epilepsy.com therefore cannot guarantee the accuracy of any content edited with the Wiki sections. While epilepsy.com, the Epilepsy Therapy Project, and its partners encourage visitor interaction and publishing within these sections, users should use caution when exploring content, especially as it pertains to health concerns. No content on epilepsy.com is intended to replace the care of a doctor. We encourage you to contact your own health care provider for individual medical advice. We cannot provide second opinions or make specific recommendations regarding therapy, nor does this Wiki content constitute a recommendation for any diagnosis or treatment options.


Mitochondrial disease is confusing because the symptoms vary depending not only on the exact type of defect, but also on the individual. There are common features to most mitochondrial disorders, which affect both adults and children, boys and girls, of all races.

Common features of mitochondrial disease are:

  • marked fatigue, especially with activity
  • exercise intolerance
  • occasional pain, especially in the muscles (cramping)
  • heat intolerance
  • difficulty recovering from illnesses (infections or viruses) or surgery
  • digestive issues - commonly reflux, constipation or more severe, gastric dysmotility and eosinophilic disease.

There are many, many more symptoms but again, the type and severity varies widely from person to person.

Support is important for all people affected by mitochondrial disease, since the disease is often unpredictable and in many cases, invisible. Prevention and maintaing excellent hydration as well as rest, energy management and nutrition are cornerstones to managing the disease long-term.

MitoAction offers a free meeting the first Friday of every month by toll-free teleconference where a guest speaker (usually a doctor) discusses a topic that is important to adults and children with "mito". Anyone can join the conference. Information is available on MitoAction's website.

 


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