Posted by CCF Neurology MD on September 18, 1997 at 19:08:54:

In Reply to: acid-base posted by sandy on September 13, 1997 at 23:32:41:

: I have been diagnosed as CPEO Mitochondria disease, with unconfirmed muscle biopsy but myopathic EMG in bicep and back muscles. I’ve had episodes of both intermittent shortness of breath (but exercise improves) and frequent urination (without infection and especially during exercise) over the years. A pulmonary assessment found good muscles but low CO2 and high O2. I was diagnosed with panic disorder. I can’t reproduce the hypoventilation with hyperventilation and it is not situational. I confront my problems. Given my other diagnose could this be some kind of acid-base problem, like metabolic alkalosis due to and electrolyte imbalance? or paradoxical acidosis? or panic attack with renal insufficiency?

Dear Sandy:

The syndrome of progressive external ophthalmoplegia is one of the more common manifestations of deletions/mutations of mitochondrial DNA, but could also conceivably occur in other conditions such as other rare myopathies, Vitamin E deficiency, some heredofamilial spinocerebellar ataxias, other neurodegenerative metabolic disorders, and even myasthenia gravis. A muscle biopsy alone may not be a very sensitive means of diagnosing mitochondrial disease, which indeed is a likely possibility if you do have the CPEO syndrome. There are more elaborate tests available for diagnosing mitochondrial disease such as DNA analysis, biochemical study of oxidative enzyme complexes, etc., which may be indicated in your case. Some patients with mitochondrial disease have a lactic acidosis, either constantly to a varying degree, or intermittently. Intermittent acidosis may cause episodes of subjective shortness of breath (like what you describe). Also, since it is a metabolic acidosis, CO2 levels may be actually low, but so should be the pH. Without actual availability of all the data, we obviously can not comment accurately on the diagnostic possibilities.
The condition that you may have is quite a rare one, and you can benefit by seeking a second opinion from an academic referral neurolomuscular department near you. If you live near Cleveland, I suggest that you see Dr. Shields, Dr. Levin, Dr. Pioro, or Dr. Mitsumoto at the Cleveland Clinic, who are all highly reputed and experienced neuromuscular specialists. Other departments that I can recommend include the ones at Columbia (New York), Mayo Clinic, Johns Hopkins, University of Rochester (NY), and Ohio State University (Columbus), to name a few.
Good luck!
This information is provided for general medical education purposes only. Please consult you physician for diagnostic and treatment options of your specific medical condition.