Causes
These mutations impair the function of mitochondria, the cell’s energy-producing structures, resulting in Leigh Syndrome, a severe neurological disorder caused by genetic mutations of mitochondrial DNA or nuclear DNA. Leigh Syndrome can be caused by more than 75 different genetic mutations, most of which disrupt the production process of energy in cells, resulting in the degeneration of the central nervous system.
Symptoms
Symptoms of Leigh Syndrome typically present in infancy or early childhood, and can vary widely from person to person.
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Symptoms of neurological decline include developmental delays, loss of previously acquired skills, and muscle weakness.
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Among the movement disorders are ataxia (lack of muscle coordination), dystonia (involuntary muscle contractions), and tremors.
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Problems with breathing: Respiratory difficulties and abnormal breathing patterns.
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Issues with feeding: Difficulty swallowing and failure to thrive.
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There are various types of seizures that can occur.
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Hypertrophic cardiomyopathy (thickening of the heart muscle) and other heart-related problems.
Diagnosis
Clinical evaluations, imaging studies, and genetic testing are used to diagnose Leigh Syndrome:
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Evaluation of neurological symptoms and developmental history.
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Magnetic Resonance Imaging (MRI) of the brain can reveal characteristic lesions.
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To confirm the diagnosis, genetic testing is used to identify mutations in mitochondrial or nuclear DNA.
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Testing for abnormal levels of lactate and pyruvate in blood, urine, and cerebrospinal fluid.
Treatment
The primary goal of treatment for Leigh Syndrome is to manage symptoms and improve quality of life:
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Providing respiratory support, nutritional support through feeding tubes, and physical therapy is considered supportive care.
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In addition to anticonvulsants for seizure control, medications are prescribed to manage symptoms such as muscle spasms and movement disorders.
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Some patients may benefit from supplements such as thiamine (vitamin B1), biotin, or coenzyme Q10, which can help improve mitochondrial function.
Prevention
Although Leigh Syndrome is not preventable, genetic counseling and testing can help prospective parents understand their risks:
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Provides information regarding the likelihood of passing the condition to offspring and discusses reproductive options.
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Occasionally, prenatal genetic testing can determine if a fetus has mutations associated with Leigh Syndrome.
Conclusion
Genetic mutations that affect mitochondrial function cause Leigh Syndrome, a complex and severe neurological disorder. Neurological decline, movement disorders, respiratory issues, feeding difficulties, seizures, and cardiovascular problems typically occur in early childhood. Clinical evaluation, imaging studies, and genetic tests are used to diagnose the disease. Supportive care and symptom management can improve the quality of life for those affected. Genetic counseling is essential for families at risk of passing on the condition.
