Mitochondrial diseases are a diverse group of disorders defined by impaired energy production. Their effects depend on which cells are affected and to what degree, leading to a wide variety of symptoms that often mimic other health conditions—earning them the nickname “notorious masqueraders.”
These disorders arise when mitochondria fail to produce enough ATP to sustain cellular needs, causing:
Cellular dysfunction
Tissue injury
Progressive organ damage
Because some organs require continuous, high levels of energy, they’re disproportionately impacted:
Brain & Peripheral Nerves: seizures, migraines, stroke-like episodes, developmental delays, neuropathy, cognitive decline
Muscles: weakness, cramps, exercise intolerance, ptosis (drooping eyelids), myopathy
Heart: cardiomyopathy, conduction abnormalities (arrhythmias)
Liver & Kidneys: metabolic crises, liver failure, renal tubular acidosis
Eyes & Ears: optic atrophy, retinitis pigmentosa, hearing loss
Endocrine System: diabetes, thyroid dysfunction, adrenal insufficiency, growth failure
Prevalence: Approximately 1 in 5,000 individuals are affected—more common than several well-known inherited conditions.
Seemingly unrelated conditions in one person (e.g., diabetes + hearing loss + neuropathy)
Progressive exercise intolerance and unusual fatigue
Developmental regression in children (loss of previously acquired skills)
Multi-organ involvement without a clear unifying diagnosis
Episodes triggered by stressors (infection, surgery, dehydration)
Symptoms may wax and wane and worsen during physiological stress. Recognizing this pattern can be key to diagnosis and management.
Mitochondrial diseases can look like many other conditions. Their broad, multisystem presentation and stress-triggered crises make careful, integrative clinical evaluation essential.