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Leg Muscle Biopsy Results
I am a 37-year-old woman with a grocery list of symptoms. My leg muscle biopsy had some unusual findings that require a DNA sequence, which is being done right now. In the meantime, I'm wondering if any doctor out there may be able to interpret the current findings. The neurologist that did the biopsy said "I really don't know what to make of this" when discussing the biopsy results with me". Not very encouraging. The findings are as follows:
1. ENZYME ANALYSIS
Reduced CS and borderline low Complex I activity. All other Complex enzyme activities found within normal limits in the patient's muscle compared to control tissue. Because low CS activity specific Complex IV and V enzyme ratios relative to citrate synthase appear to be increased. The level of combined complex I & III activity in the patient (12) was within normal limits compared to control levels (range 6-52).
2. GENETIC ANALYSIS of mtDNA MUTATIONS/DELETIONS
Absence of all screened point mtDNA mutations and deletions associated with neuromuscular disorders. However, a potential nucleotide change (polymorphism) was noted in ATP6 (#10) since the restriction enzyme did not cut at its usual site. To confirm this change DNA sequence will be required.
The reason for the muscle biopsy is because I have had numerous symptoms for years now that have continued to worsen and they can't figure out what's going on. I have severe muscle & joint pain, muscle spasms and uncontrolled muscle jerking, difficulty walking, some balance issues at times, cognitive dysfunction (e.g., impaired memory, reasoning, concentration), fatigue, numbness is legs and feet, knee pain, migraines, back pain, pelvic/hip pain, severe insomnia. The leg pain is so severe that I cannot function without narcotic pain relievers. I've already been diagnosed with Small Fiber Neuropathy and Fibromyalgia.
My question is what could the muscle biopsy results mean? Any input will be greatly appreciated.
1. ENZYME ANALYSIS
Reduced CS and borderline low Complex I activity. All other Complex enzyme activities found within normal limits in the patient's muscle compared to control tissue. Because low CS activity specific Complex IV and V enzyme ratios relative to citrate synthase appear to be increased. The level of combined complex I & III activity in the patient (12) was within normal limits compared to control levels (range 6-52).
2. GENETIC ANALYSIS of mtDNA MUTATIONS/DELETIONS
Absence of all screened point mtDNA mutations and deletions associated with neuromuscular disorders. However, a potential nucleotide change (polymorphism) was noted in ATP6 (#10) since the restriction enzyme did not cut at its usual site. To confirm this change DNA sequence will be required.
The reason for the muscle biopsy is because I have had numerous symptoms for years now that have continued to worsen and they can't figure out what's going on. I have severe muscle & joint pain, muscle spasms and uncontrolled muscle jerking, difficulty walking, some balance issues at times, cognitive dysfunction (e.g., impaired memory, reasoning, concentration), fatigue, numbness is legs and feet, knee pain, migraines, back pain, pelvic/hip pain, severe insomnia. The leg pain is so severe that I cannot function without narcotic pain relievers. I've already been diagnosed with Small Fiber Neuropathy and Fibromyalgia.
My question is what could the muscle biopsy results mean? Any input will be greatly appreciated.
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