From the Research
POLG myopathy is a genetic mitochondrial disorder that requires a multidisciplinary approach for management, focusing on symptom management and avoiding valproic acid to prevent liver failure, as supported by the most recent study on the topic 1. The condition typically presents with progressive muscle weakness, exercise intolerance, and neurological symptoms including seizures, ataxia, and peripheral neuropathy. Patients may also experience liver dysfunction, gastrointestinal problems, and sensory abnormalities.
Key Features of POLG Myopathy
- Progressive muscle weakness
- Exercise intolerance
- Neurological symptoms such as seizures, ataxia, and peripheral neuropathy
- Liver dysfunction
- Gastrointestinal problems
- Sensory abnormalities Diagnosis involves genetic testing for POLG mutations, muscle biopsy showing ragged red fibers, and laboratory tests revealing elevated lactate levels.
Diagnostic Approach
- Genetic testing for POLG mutations
- Muscle biopsy
- Laboratory tests for elevated lactate levels Treatment is primarily supportive, focusing on symptom management with physical therapy, anti-seizure medications like levetiracetam (500-1500mg twice daily), and nutritional supplements such as coenzyme Q10 (100-600mg daily), L-carnitine (1-3g daily), and riboflavin (100-400mg daily) 2.
Treatment Options
- Physical therapy
- Anti-seizure medications like levetiracetam
- Nutritional supplements such as coenzyme Q10, L-carnitine, and riboflavin Regular monitoring of liver function, cardiac status, and neurological symptoms is essential, as the condition progresses at variable rates, with some forms appearing in childhood (Alpers syndrome) and others in adulthood 3, 4, 5.