Mitochondrial myopathy presenting as fibromyalgia: A case report
– Source: Journal of Medical Case Reports, Feb 10, 2012
Mishal Abdullah, et al.
[Note: Mitochondrial myopathies are disorders characterized by structural abnormalities of muscle mitochondria, involving abnormalities in generation and utilization of ATP, the cell’s energy-generating fuel. As in this case, genetic testing of muscle cells may find mutations indicative of these conditions, which emerging evidence suggests are “among the most common inherited metabolic diseases.” Studies indicate the supplements that supported successful resolution of this patient's symptoms promote improved mitochondrial function.]
Introduction: To the best of our knowledge, we describe for the first time the case of a woman who met the diagnostic criteria for fibromyalgia, did not respond to therapy for that disorder, and was subsequently diagnosed by biochemical and genetic studies with a mitochondrial myopathy.
Treatment of the mitochondrial myopathy resulted in resolution of symptoms.
This case demonstrates that mitochondrial myopathy may present in an adult with a symptom complex consistent with fibromyalgia.
Case Presentation: Our patient was a 41-year-old Caucasian woman with symptoms of fatigue, exercise intolerance, headache, and multiple trigger points.
Treatment for fibromyalgia with a wide spectrum of medications including non-steroidal anti-inflammatory drugs, antidepressants, gabapentin and pregabalin had no impact on her symptoms.
A six-minute walk study demonstrated an elevated lactic acid level (5mmol/L; normal <2mmol/L).
Biochemical and genetic studies from a muscle biopsy revealed a mitochondrial myopathy.
Our patient was started on a compound of:
• Coenzyme Q10 (ubiquinone) 200mg [“shown to improve mitochondrial function”],
• Creatine 1000mg [“generates additional ATP”],
• Carnitine 200mg [“enhances transport of fatty acids into the mitochondria”]
• And folic acid 1mg [“cofactor for several mitochondrial enzymes”] …
… to be taken four times a day.
She gradually showed significant improvement in her symptoms over a course of several months.
Conclusions: This case demonstrates that adults diagnosed with fibromyalgia may have their symptom complex related to an adult onset mitochondrial myopathy.
This is an important finding since treatment of mitochondrial myopathy resulted in resolution of symptoms.
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Source: Journal of Medical Case Reports, Feb 10, 2012;6(1):55. PMID:22325469, by Abdullah M, Vishwanath S, Elbalkhi A, Ambrus JL Jr. [Email: firstname.lastname@example.org]