by What is Leigh Syndrome Treatment Industry?
Leigh syndrome, also known as sub acute necrotizing encephalomyelopathy (SNE), is a rare genetic neurodegenerative disorder characterized by degeneration of the central nervous system. The symptoms develop rapidly and can include problems with movement, coordination and balance, intellectual disability, respiratory problems, and vomiting or poor appetite. It is named after Dr. Denis Archibald Leigh, an English neuropathologist and neurologist who first described the disease and its symptoms in 1951.
Causes and Genetics of Leigh Syndrome Treatment Industry
Leigh Syndrome Treatment is caused by defects in mitochondrial DNA or nuclear genes involved in cellular energy production and metabolism in the central nervous system. Mitochondria are organelles or tiny structures within cells that convert food into energy. Defects in mitochondrial or nuclear genes disrupt the mitochondrial function and energy production.
Specific mutations linked to Leigh syndrome include those in mitochondrial DNA as well as nuclear genes encoding mitochondrial enzymes and proteins involved in the mitochondrial respiratory chain or mitochondrial DNA expression and maintenance. These mutations lead to impaired ATP production in the brain and other tissues which causes cell damage and eventually cell death.
Leigh syndrome is a genetically heterogeneous disorder, meaning it can be caused by mutations in different genes. Over 75 distinct genetic defects have been associated with Leigh syndrome. Inherited forms of the disorder can be passed down as autosomal recessive, X-linked recessive or mitochondrial/maternal inheritance.
Clinical Manifestations of Leigh Syndrome
Leigh syndrome presents with varied clinical manifestations depending upon the genetic defects and the areas of the central nervous system affected. Common symptoms include:
– Developmental delay or regression – Patients may show signs of normal development initially but later regress in skills like sitting, standing or crawling.
– Movement disorders – Abnormal muscle tone, stiffness, weakness, impaired coordination.
– Respiratory problems – Difficulty in breathing, apnea.
– Vision issues – Loss of vision, blurred vision.
– Seizures.
– Diseases of other organs – Cardiomyopathy, liver dysfunction, lactic acidosis.
Diagnosis and Testing for Leigh Syndrome.
Since symptoms of Leigh syndrome overlap with other neurological conditions, it involves diagnostic testing to confirm the cause. Tests include:
– Brain MRI – Shows characteristic symmetrical lesions in basal ganglia and brainstem.
– Blood tests – Elevated lactate and pyruvate levels indicate mitochondrial dysfunction.
– Cerebrospinal fluid examination – Elevated protein and lactate.
– Muscle or skin biopsy – Can show structural changes in mitochondria.
– Genetic testing – Detects mutations in mitochondrial or nuclear genes. Whole exome sequencing is commonly used.
Treatment and Management of Leigh Syndrome
Currently, there is no cure for Leigh syndrome and management focuses on symptom relief and supportive care. Treatment plans are customized based on the underlying genetic cause, symptoms and organ involvement. Some treatment approaches include:
– Supplementation with antioxidants like Co-Q10, vitamins C and E to reduce oxidative stress.
– Special diets like low protein, high carbohydrate diets to minimize metabolic stress.
– Medications to manage seizures, movement disorders and breathing problems.
– Physiotherapy and occupational therapy to maintain muscle strength and mobility.
– Surgery for severe complications like hydrocephalus.
– Supportive care including tube feeding, ventilation support, monitoring of organ functions.
– Stem cell transplantation is being researched as a potential treatment.
– Experimental gene therapies are under investigation to replace defective mitochondrial DNA.
Prognosis of Leigh Syndrome
The prognosis of Leigh syndrome depends on the underlying genetic cause, age of onset, symptoms and organ involvement. It is generally a progressive disorder with rapid deterioration. Patients with onset during infancy have poorer prognosis while later onset forms may survive into adulthood.
supportive care, estimated average survival is 1 to 4 years after diagnosis. Early diagnosis and aggressive treatment can potentially slow progression and improve outcomes. Further research into precision therapies holds promise for better management of this 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
