Mitochondrial Disorders
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Houston Methodist neurologists are internationally recognized for mitochondrial disorder research and development of new, precise treatments. We combine decades of research with the latest genetic testing and diagnostic techniques to develop personalized treatment plans for every patient.
Mitochondria are present in nearly every cell of the body. They process oxygen and turn food into fuel, generating energy for cells to function. Myopathies affect the muscles connected to bone. Mitochondrial myopathies are chronic, usually genetic disorders that occur when the mitochondria fail to produce enough energy for cell or organ function.
Mitochondrial myopathy is not a single condition, but a constellation of diseases that affect each person differently. The causes can be complex and can include exposure to toxic substances or certain medications, as well as genetic and random cell mutations.
Diagnosing & Treating Mitochondrial Disorder
How is mitochondrial disorder diagnosed
There is no single test that provides a definitive diagnosis for mitochondrial disease. Diagnostic techniques may include:
- Brain imaging tests
- Genetic testing
- Metabolic testing
- Muscle biopsy
- Muscle testing
Symptoms of mitochondrial disease often are present at birth but can occur at any age and vary in severity. No single hallmark symptom is unique to mitochondrial disease and symptoms resemble other neuromuscular disorders.
However, a combination of three or more symptoms is a strong indicator of mitochondrial disease, especially when the symptoms involve more than one organ system. Mitochondrial disease appears to cause the most damage to cells in the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems.
Symptoms can include:
- Ataxia
- Cataracts
- Cardiomyopathy and heart defects
- Dementia
- Diabetes mellitus
- Exercise intolerance
- Fluctuating encephalopathy
- Hearing impairment
- Learning disabilities
- Migraine
- Muscle weakness
- Paralysis of the muscles that move the eyeball
- Ptosis (drooping of the upper eyelid)
- Vision problems
- Stunted growth
- Seizures
- Spasticity
- Stroke-like episodes
Depending on your symptoms and the results of your testing, our specialists will design a treatment plan to improve your daily functioning and quality of life.
What if I need advanced care or a second opinion? 
What treatments are available? 
Though there is no specific treatment for mitochondrial disease, treatment can help manage symptoms. Treatment options may include:
- Exercise
- Medication
- Physical therapy
- Vitamins and supplements
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