Causes
It is a genetic disorder caused by mutations in mitochondrial DNA. MELAS syndrome stands for Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes. These mutations prevent the mitochondria from producing energy for the cells, causing a variety of symptoms. They are inherited maternally, which means that the mitochondria in the egg are passed down from mother to child.
Symptoms
MELAS syndrome symptoms are common in childhood. Common symptoms include:
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Strokes-like episodes can cause temporary muscle weakness, vision loss, or difficulty speaking.
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Exercise intolerance and general weakness.
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Seizures are episodes of abnormal electrical activity in the brain.
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Nitrates, vomiting, and fatigue can be caused by lactic acid buildup in the body.
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Both ears can be affected by sensorineural hearing loss.
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Migraines are severe headaches accompanied by nausea and light sensitivity.
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A person's memory, learning, and other cognitive functions are impaired.
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Short stature is characterized by a delayed growth rate and a shorter height.
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In some cases, diabetes mellitus can develop.
Diagnosis
In order to diagnose MELAS syndrome, clinical evaluation, genetic testing, and other diagnostic tools are used:
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Symptoms and family history are assessed by a healthcare professional.
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Testing for mitochondrial DNA mutations is part of MELAS genetic testing.
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An examination of a small sample of muscle tissue under a microscope is called a muscle biopsy.
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Imaging studies such as MRIs and CT scans can detect stroke-like lesions.
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Blood tests measure lactic acid and other metabolic markers.
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EEG recordings are used to identify seizure patterns.
Treatment
Currently, MELAS syndrome is incurable, so treatment focuses on managing symptoms and slowing its progression:
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Antioxidants include coenzyme Q10, L-arginine, and vitamins that support mitochondrial function.
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Medication that controls seizures.
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Dietary management of lactic acidosis.
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Physical therapy involves exercises that maintain muscle strength and mobility.
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Hearing aids are devices that assist with hearing loss.
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Symptoms of stroke-like episodes require immediate medical attention and supportive care.
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Emerging symptoms and complications are regularly monitored by a team of specialists.
Prevention
As a genetic disorder, MELAS syndrome cannot be prevented. However, certain steps can be taken to manage the risk and support those who suffer from it:
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Having genetic counseling can inform parents about the risks of passing MELAS on to their children if their family has a history of the condition.
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It may be possible to test for mitochondrial DNA mutations during pregnancy.
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Keeping a healthy lifestyle, such as eating a balanced diet, exercising regularly, and avoiding smoking and excessive drinking, can support overall well-being and reduce symptoms.
Conclusion
In order to manage MELAS syndrome, it is important to recognize the symptoms, understand the causes, and seek prompt diagnosis. The condition has no cure, but a variety of treatment options can be used to manage symptoms and improve quality of life. Genetic counseling and supportive care are essential for families dealing with it.
