I have a metabolic myopathy that they are thinking is mitochondrial. ("They" = metabolic doc, 2 neuromuscular docs). I am going to get a fresh muscle biopsy with Dr Shoffner in Atlanta in the near future. This is the "gold standard" for diagnosing mitochondrial myopathies, I guess. I had a frozen muscle biopsy a couple of years ago, but it was done incorrectly and also was never sent for any of the mito stuff, so we have to repeat the biopsy to pin down the diagnosis. The frozen biopsy was abnormal but in non-specific ways (type 2 fiber atrophy, lipid droplet inclusions, etc). Some of my labs point toward mito, and definitely point to a metabolic myopathy of some sort. We are just trying to pin down the specific broken enzyme.

My symptoms:

-Recurrent attacks of rhabdomyolysis, often very severe. My record CPK is 109,000 (normal is 0-125).
-Smaller attacks with severe myalgias, muscle weakness, and myoglobinuria without big elevation of CPK
-Daily background pain in most muscle groups, requiring me to be under the care of a pain management doc and on opiates in order to have some semblance of function/life back.
-Muscles shaking, cramping
-Frequent myoglobinuria, which means there is myoglobin (a product of broken-down muscle tissue that is similar to hemoglobin and toxic to the kidneys) in my urine. The symptoms of this are dark urine (red/brown/black) and positive urine dipsticks for heme with few red blood cells seen on UA.
-Some amino acids, such as 1-methyl-histidine, elevated in blood and urine. Ketones frequently elevated as well. Reducing substances seen in urine.
-Metabolic acidosis from intermittent proximal renal tubule dysfunction. This also can mess up other electrolyte levels, such as potassium and magnesium.
-Mild cardiac issues: minor EKG abnormalities, persistent tachycardia, history of a pericardial effusion.
-Mild neuro issues: hyperreflexia, positive Babinski's on left foot, positive Hoffman's on both hands, patchy paresthesias from time to time, myoclonus, fasciculations, high tone in legs
-Mood issues: become very irritable and anxious when metabolically decompensated and in the days following an attack. Doctors were trying to figure this out and called it all different names of mood disorders, anxiety disorders, etc (and tried the corresponding meds), only to discover that it really only happens like this when I am sick or just getting over being sick, and so now we focus on treating the underlying metabolic "mess" instead of on treating the mood/anxiety symptoms so much.
-Anemia: may or may not be related to the metabolic disorder, but has been resistant to treatment with high doses of iron by mouth. We are trying to come up with a plan for wht to do next. It is not bad enough to need a transfusion or anything like that.