Problems That May Be Associated with Mitochondrial Cytopathies
| Organ Systems | Possible Problems |
| Brain | developmental delays, mental retardation, dementia, seizures, neuro-psychiatric disturbances, atypical cerebral palsy, migraines, strokes |
| Nerves | weakness (which may be intermittent), neuropathic pain, absent reflexes, dysautonomia, gastrointestinal problems (ge reflux, dysmotility, diarrhea, irritable bowel syndrome, constipation, pseudo-obstruction), fainting, absent or excessive sweating resulting in temperature regulation problems |
| Muscles | weakness, hypotonia, cramping, muscle pain |
| Kidneys | renal tubular acidosis or wasting resulting in loss of protein, magnesium, phosphorous, calcium and other electrolytes. |
| Heart | cardiac conduction defects (heart blocks), cardiomyopathy |
| Liver | hypoglycemia (low blood sugar), liver failure |
| Eyes | visual loss and blindness |
| Ears | hearing loss and deafness |
| Pancreas and Other Glands | diabetes and exocrine pancreatic failure (inability to make digestive enzymes), parathyroid failure (low calcium) |
| Systemic | failure to gain weight, short stature, fatigue, respiratory problems including intermittent air hunger, vomitting |
Taken from Mitochondrial News, Fall 1997 Issue by Bruce H. Cohen, M.D. When & Where to Get a Diagnosis
Diagnosis of mitochondrial myopathies has been done only since about 1988. Fortunately the situation has improved dramatically for diagnosis in a local hospital. In the past I recommended going to only three doctors: Dr. Richard Haas in San Diego; Dr. Bruce Cohen in Cleveland, Ohio; or Dr. John Shoffner in Atlanta, GA. They are still the top guys in the field, but are no longer the only ones who can accurately diagnosis mitochondrial disease through muscle biopsy. Most major medical centers can offer help. If you are looking for a doctor for diagnosis purposes, try the UMDF (linked on this page) or call and ask for a metabolic physician. Actually, now there may not be a need for muscle biopsies in everyone, though that’s a matter for discussion with your doctors. Since we already knew that our kids had a confirmed mitochondrial disease because of the muscle biopsy done by Dr. Shoffner in the 90s, we’ve just been on the hunt for the error ever since. Two more muscle biopsies with Dr. Shoffner showed nothing wrong, one with a female sibling of Tim’s, and one with me. But a muscle biopsy done elsewhere with me showed the opposite, and that I did, in fact, have a mito disease. Along comes TRANSGENOMIC Clinical Reference Laboratory. They are able to take blood, and in a process that I don’t pretend to know how it works, read the whole mtDNA thing and tell what’s wrong. It worked in our family, and they were able to find 4 matching mutations in Tim and Danny (the two tested) plus 4 more mutations in Danny. Here is the info on this lab, direct from their result sheet:
TRANSGENOMIC Clinical Reference Laboratory
Disclaimer: These Wellness Protocols are not intended to replace the attention or advice of a physician or other qualified healthcare professional. These statements have not been evaluated by the Food and Drug Administration. These products are not intended to diagnose, treat, cure, or prevent any disease.
