Mitochondrial myopathy presenting as fibromyalgia: a case report

Area of Science:

• Neurology
• Genetics
• Biochemistry

Background:

• Fibromyalgia is a chronic condition characterized by widespread pain, fatigue, and cognitive difficulties.
• Standard fibromyalgia treatments were ineffective for a patient presenting with typical fibromyalgia symptoms.
• This case highlights the importance of considering alternative diagnoses when standard treatments fail.

Purpose of the Study:

• To report a case of adult-onset mitochondrial myopathy initially diagnosed as fibromyalgia.
• To demonstrate that mitochondrial myopathy can present with symptoms mimicking fibromyalgia.
• To emphasize the diagnostic value of biochemical and genetic studies in complex cases.

Main Methods:

• A 41-year-old woman with fatigue, exercise intolerance, and headaches was evaluated.
• Diagnostic workup included a six-minute walk test revealing elevated lactic acid.
• Muscle biopsy with biochemical and genetic analysis confirmed mitochondrial myopathy.

Main Results:

• The patient's symptoms significantly improved after treatment for mitochondrial myopathy.
• Treatment involved a supplement regimen including coenzyme Q10, creatine, carnitine, and folic acid.
• Resolution of symptoms occurred over several months of targeted therapy.

Conclusions:

• Adult-onset mitochondrial myopathy can present as fibromyalgia, leading to misdiagnosis.
• Biochemical and genetic testing are crucial for identifying mitochondrial myopathy in such cases.
• Effective treatment of mitochondrial myopathy can lead to complete symptom resolution.