Symptoms and Indicators of Leigh Syndrome: An Overview
Leigh Syndrome (LS) is a rare, progressive neurodegenerative disorder that primarily affects infants during their first year of life. The condition targets the central nervous system, including the brain and spinal cord, and can cause a range of debilitating symptoms.
In the early stages, LS may present with a loss of previously acquired motor skills, loss of appetite, continuous crying, frequent vomiting, irritability, seizures, and failure to grow or reach developmental milestones. As the disease progresses, it can lead to a rapid deterioration of motor skills and symptoms such as vomiting and seizures. In severe cases, it may cause lactic acidosis, a condition where the body produces too much lactic acid.
The outlook for LS is generally poor, with many children dying within the first 2-3 years. However, for individuals who survive past the first few years of life, the long-term prognosis remains poor but varies depending on the genetic cause and extent of mitochondrial dysfunction.
Survival beyond early childhood is possible but uncommon, and the disease is associated with ongoing neurological deterioration, including movement disorders, epilepsy, and respiratory failure. Patients with specific genetic mutations, such as complex II deficiency related to succinate dehydrogenase, may live into early adulthood or longer if cerebral involvement is mild, but often have severe disability.
Treatment for LS is largely supportive and symptomatic, as there is no cure for the condition. Pharmacologic supplements, such as riboflavin, thiamine, biotin, ubiquinone, L-carnitine, are sometimes used to support mitochondrial function, but their benefits tend to be limited or transient.
Deep Brain Stimulation (DBS), specifically Globus pallidum deep brain stimulation (GPi-DBS), has shown sustained long-term improvement of movement symptoms and partial control of drug-resistant epilepsy in some cases with pathogenic DNM1 variants. Seizure management is another crucial aspect of treatment, with antiepileptic drugs used to control epilepsy, which is common in LS though may be drug-resistant.
Supportive care, including physical therapy, occupational therapy, respiratory support, nutritional support, and management of complications, plays a vital role in improving quality of life and prolonging survival for those living with LS.
In summary, while long-term survival with LS is rare and associated with significant disability, ongoing multidisciplinary care including movement disorder treatments like GPi-DBS, seizure control, and supportive therapies can improve symptoms and life quality for some patients surviving past early childhood.
Estimates suggest that LS occurs in 1 in 36,000-40,000 births. It is a genetic condition that occurs due to genetic alterations affecting mitochondrial DNA or enzyme production. In rare cases, LS can affect adolescents and young adults. LS is also known by various names such as Leigh's disease, classical Leigh syndrome, and subacute necrotizing encephalomyelopathy.
- Leigh Syndrome, a genetics disorder, primarily impacts infants but occasionally affects adolescents and young adults, causing serious neurological-disorders such as movement disorders, epilepsy, and respiratory failure.
- The science behind Leigh Syndrome reveals it to be a genetic condition resulting from alterations in mitochondrial DNA or enzyme production, leading to a range of debilitating medical-conditions.
- The health-and-wellness of LS patients improves with a multidisciplinary approach, combining treatments like Globus pallidum deep brain stimulation (GPi-DBS), seizure management, supportive care, and rehabilitative therapies.
