Mitochondrial Myopathy

[Hanna5918]

For the last 4 years, I have had an array of fluctuating symptoms, including: severe fatigue, muscle pain and cramping, digestive dysmotility, tachycardia, shock-like sensations, episodes of feeling like I’m not getting enough air, migraines, weakness, exercise intolerance, muscle twitching,  blurred vision, and drooping eyelids. I was diagnosed with lupus based on positive ANA and low C3 & C4 tests. Two years ago, another doctor “undiagnosed” me, as he didn’t think my tests or symptoms were diagnostic for lupus. He diagnosed me based on forearm test, showing lactate of 0.9 baseline, and 5.4 following 5 minutes of walking up and down stairs. My ammonia level was 37 baseline, and 35 following stairs. Tests I have had done include 24 eeg, mri (small spots on parietal lobe), blood tests for known mutations (melas, etc), spinal tap (normal), and emg (essentially normal). Other lab tests that have been abnormal include: low alkaline phosphate, electrolyte (potassium, sodium, calcium) imbalances (low), low CO2, and presence of urine ketones. I also had a muscle biopsy (frozen tissue) which showed increased peripheral staining on trichome stain (report said could be accumulations of mitochondria). It also showed some atrophy of type 2 muscle fibers. My rheumatologist diagnosed me with mitochondrial myopathy. I was recently evaluated by a neuromuscular spec at Cleveland Clinic, who said my clinical picture points to mito, but my biopsy was not diagnostic of it. I’m wondering what your thoughts are on my complexity of symptoms and if the above mentioned lab results mean anything.

[CCF-Neuro-M.D.-CS]

The clinical story could be consistent with mitochondrial dysfunction. To be sure about the biopsy, it should be reviewed by a pathologist with experience in mitochondrial disorders. Also, muscle biopsies for mitochondrial disease typically have the typical biopsy evaluation, but then you can also have the actual mitochondrial enzymes (steps in the energy process) tested. YOu should ask your CCF neurologist if this additional testing was done, and if he/she thinks the special muscle or skin biopsy should be performed. Good luck.

[Hanna5918]

My mother has very similar symptoms, including muscle pain, neurological symptoms, and fatigue, and was diagnosed with chronic fatigue syndrome. My father has many medical problems including digestive dysmotility, pancreatic insufficiency, heart arythmia, and history of blood clots.