Causes
MELAS syndrome is a genetic disorder caused by mutations in mitochondrial DNA, which stands for Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes. As a result of these mutations, the mitochondria cannot produce energy for the cells, causing a wide range of symptoms. It is inherited maternally, which means the mitochondria in the egg are passed on from mother to child.
Symptoms
It is common for MELAS syndrome symptoms to appear in childhood. Common symptoms include:
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Temporary muscle weakness, vision loss, or difficulty speaking can be symptoms of stroke-like episodes.
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Generalized weakness and intolerance to exercise.
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Brain seizures are episodes of abnormal electrical activity.
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A buildup of lactic acid in the body can cause nausea, vomiting, and fatigue.
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Sensorineural hearing loss can affect both ears.
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A migraine is a severe headache that is often accompanied by nausea and light sensitivity.
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Memory, learning, and other cognitive functions are impaired.
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A short stature is characterized by a delayed growth and a shorter height than average.
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It is possible to develop diabetes mellitus in some cases.
Diagnosis
Clinical evaluation, genetic testing, and other diagnostic tools are used to diagnose MELAS syndrome:
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A healthcare professional assesses symptoms and family history.
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MELAS genetic testing involves testing for specific mitochondrial DNA mutations.
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A muscle biopsy is an examination of a small sample of muscle tissue under a microscope to identify characteristic changes.
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Brain imaging studies such as MRIs and CT scans can detect stroke-like lesions.
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Lactic acid and other metabolic markers are measured in blood tests.
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Recording of brain activity to identify seizure patterns with EEG.
Treatment
MELAS syndrome is currently incurable, so treatment focuses on managing symptoms and slowing its progression:
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Coenzyme Q10, L-arginine, and vitamins to support mitochondrial function are antioxidants.
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Seizure-controlling medications.
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Managing lactic acidosis with specialized diets.
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Exercises that maintain muscle strength and mobility are called physical therapy.
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Aids for hearing loss are devices that assist with hearing.
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Stroke-like episodes require immediate medical attention and supportive care.
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A team of specialists monitors emerging symptoms and complications regularly.
Prevention
There are no definitive preventive measures for MELAS syndrome, which is a genetic disorder. However, certain steps can be taken to manage the risk and support those affected by MELAS syndrome:
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In families with a history of MELAS, genetic counseling can inform parents about the risks of passing the condition on to their children.
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Testing for mitochondrial DNA mutations may be available during pregnancy in some cases.
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A healthy lifestyle, such as a balanced diet, regular exercise, and avoiding smoking and excessive alcohol, can support overall well-being and reduce symptoms.
Conclusion
For managing MELAS syndrome, it is crucial to understand the causes, recognize the symptoms, and seek prompt diagnosis. A variety of treatments can be used to manage symptoms and improve quality of life for those affected by this condition, even though there is no cure. Genetic counseling and supportive care are essential to families dealing with this condition.
