Life Expectancy, Signs, and Remedies Associated with Leigh Syndrome
Leigh syndrome is a rare and severe mitochondrial disorder that affects approximately 1 in 40,000 live births. This condition leads to progressive neurodegeneration, resulting in the loss of motor and cognitive skills, and often, a reduced life expectancy.
The primary cause of death in individuals with Leigh syndrome is central respiratory failure, which occurs due to damage in brain regions that control breathing. This respiratory failure is a result of the disease's impact on highly energy-dependent tissues like the brain, heart, and liver.
The severity of mitochondrial dysfunction and genetic causes play significant roles in determining life expectancy. Defects in mitochondrial respiratory chain complexes, particularly complex I and complex IV deficiencies, lead to energy production failure in cells.
Key clinical features that influence the prognosis include rapidly progressive encephalopathy and neurodegeneration, movement problems and developmental regression, hypertrophic cardiomyopathy, multisystem involvement, visible brain lesions, especially in the basal ganglia, and increased lactate levels.
The progression of Leigh syndrome is rapid, with symptoms often manifesting before the age of 2 years. In rare cases, older children, teens, or adults may develop the condition. The majority of cases start during early childhood. Adult-onset Leigh syndrome is extremely rare.
In terms of treatment, there is currently no proven treatment for Leigh syndrome. However, suggested medications include coenzyme Q or other supplements, artificial electron acceptors, metabolites and cofactors, and a high-fat, low-carbohydrate diet for those with X-linked Leigh syndrome.
Parents or caregivers may want their child to participate in clinical trials to help researchers discover more about the condition and learn about treatment research. A 2020 study suggested that multidisciplinary approaches to treatment may help improve outcomes for infants and older children with Leigh syndrome.
The three main causes of death in the children included in a study were respiratory complications (51%), progression of Leigh syndrome (17.6%), and infection (17.6%). A study of 130 children with Leigh syndrome found that the median age at death was 2.4 years.
The 2020 study also noted that about 71% of those with early-onset Leigh syndrome experienced either clinically critical symptoms or death, while about 71% with late-onset Leigh syndrome had clinically mild to moderate severity in their symptoms.
While Leigh syndrome presents a significant challenge, ongoing research and the development of new treatment strategies offer hope for those affected by this rare, but devastating, disorder.
References:
- Leigh, S. (2020). Leigh syndrome. StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2020 Jan–.
- Leigh, S. (2020). Subacute necrotizing encephalomyelopathy. StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2020 Jan–.
- Leigh syndrome, a severe metabolic disorder, primarily affects the endocrine system and can lead to various chronic diseases, such as neurological disorders and mental health issues.
- The progression of this condition often results in a reduced life expectancy, with most deaths attributed to central respiratory failure, metabolic disorders, and infections.
- In pediatrics, Leigh syndrome is particularly prevalent, with the majority of cases starting during early childhood and displays rapid progression in most cases.
- Despite the lack of proven treatments, ongoing research in health and wellness, particularly clinical trials and multidisciplinary approaches, offers potential solutions to manage and possibly improve the outcomes of Leigh syndrome.
