by Causes and Symptoms of Leigh Syndrome Treatment
Leigh syndrome, also known as subacute necrotizing encephalomyelopathy (SAME), is a rare neurological disorder that affects the central nervous system. It is considered among the most common types of mitochondrial disease that affects the brain. Leigh syndrome is caused by a defect in the mitochondria, which are the energy-producing structures within cells. Mitochondria convert the energy from food into a form that cells can use called adenosine triphosphate (ATP). When mitochondria do not function properly, cells cannot produce enough ATP and this leads to Leigh syndrome.
Some common symptoms seen in individuals with Leigh syndrome include loss of previously acquired skills and developmental regression, muscle weakness and delay or loss of milestones in infants, lack of coordination, loss of vision and hearing, seizures, respiratory problems, and more severe symptoms like involuntary movement and spasms. The onset and severity of symptoms vary from person to person even within the same family.
Diagnosis and Testing for Leigh Syndrome Treatment
Diagnosis of Leigh syndrome involves neurological assessment, genetic testing, metabolic screening, brain imaging, and other laboratory testing done on blood and cerebral spinal fluid samples. Magnetic resonance imaging (MRI) of the brain helps the doctors identify specific patterns of injury or lesions that are commonly seen in the basal ganglia and brainstem in Leigh syndrome patients.
Genetic testing helps identify mutations in over 20 known genes that are associated with Leigh syndrome. These genes play a vital role in mitochondrial function and energy production. Metabolic screening assesses levels of certain substances in blood and urine samples that may give clues to the underlying biochemical and mitochondrial problem. Detecting low levels of neurotransmitters, elevated urine organic and amino acids are some indicative metabolic abnormalities.
Treatment Approaches for Leigh Syndrome
Currently, there is no cure for Leigh syndrome as the underlying mitochondrial defects cannot be reversed. However, treatment aims to slow down progression, manage symptoms, improve quality of life, and provide support care. Treatment plans often require input from multiple specialists like neurologists, geneticists, dieticians, and other healthcare experts.
Dietary Management and Nutritional Support
Diet modifications to follow a low-protein, high-energy diet is one approach as it helps reduce buildup of toxic metabolites due to mitochondrial dysfunction. It prevents further damage to cells and organs. Dietary supplements of certain vitamins, minerals, amino acids are also given based on individual metabolic requirements and deficiencies detected on testing. Maintaining adequate nutrition and calories is important as it provides energy substrates when mitochondrial process is compromised. Specific supplements like coenzyme Q10, creatine, and carnitine may help boost cellular energy production.
Medication Management
Medications are used to control symptoms like seizures. Antiepileptic drugs help prevent seizure activity and its neurological complications. Other medications are used to manage related issues like respiratory failure and movement disorders. Medicines may also be prescribed to reduce buildup of waste products and acidify urine to aid excretion. Treating any infections early prevents further stress on the system. Symptom management requires close monitoring and adjustment of medications over time with progression of disease.
Supportive Therapies
Physical, occupational, and speech therapies provide supportive care to improve motor skills and coordination affected due to Leigh syndrome. Breathing support with tracheostomy and ventilation is used in patients with severe respiratory involvement. Physiotherapy helps clear secretions, exercise lungs, and maintain muscle strength and prevent contractures.
Experimental Therapies
Stem cell therapy and gene therapy are experimental approaches being explored as potential treatments. Stem cells may help replace dead or damaged cells after transplantation. Researchers are also investigating gene therapy methods using modified viruses to deliver normal copies of the defective mitochondrial gene to cells. However, these innovative therapies require further extensive research, development, and testing of efficacy and safety before being introduced as treatment options.
Palliative and Comfort Care
For patients with advanced disease, focus shifts to palliative care and keeping the child comfortable. Good management of pain, seizure activity, breathing, and nutritional status helps maximize quality of remaining life. Providing emotional and psychological support to the family is also integral part of palliative care approach. Advance care directives and end-of-life care planning allows families to make informed choices based on the affected child’s condition and projected outcomes.
Prognosis of Leigh Syndrome
The prognoses and life expectancy for individuals with Leigh syndrome depends on the type and severity of underlying mitochondrial defect and genes involved. While milder cases may progress slowly, severe cases are often fatal within first 2 years of life due to respiratory failure or complications.
early intervention with specialist support and management may help improve prognosis to some extent. However, currently Leigh syndrome as a mitochondrial disorder has no cure and disease progression remains unpredictable even with optimal care. Future research holds promise in developing more targeted therapies for this rare but devastating disease.
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1. Source: Coherent Market Insights, Public sources, Desk research
2. We have leveraged AI tools to mine information and compile it
