Leigh Syndrome and Mitochondrial Encephalopathy Precision Panel

Overview

Leigh syndrome (subacute necrotizing encephalomyelopathy) is a severe neurological disorder that generally presents in infancy or early childhood, although it can appear during late childhood and even adulthood. It is characterized by developmental delay or psychomotor regression, ataxia, dystonia, external ophthalmoplegia, seizures, vomiting and weakness. The phenotype of Leigh syndrome is caused by alterations of mitochondrial metabolism from a variety of mechanisms including pyruvate dehydrogenase complex and respiratory chain dysfunction due to either nuclear or mitochondrial DNA mutations. This, in turn, results in brain lesions and damage of myelin sheaths coating the nerves. Leigh syndrome can have different inheritance patterns but it is most commonly inherited in an autosomal recessive pattern.
The Igenomix Leigh Syndrome and Mitochondrial Encephalopathy Precision Panel can be used to make an accurate and directed diagnosis ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.

The clinical utility of this panel is:

The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
Early initiation of multidisciplinary treatment including supplements, vitamins, pyruvate, dichloroacetate and a ketogenic diet. Consider immunomodulatory therapies if necessary.
Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
Improvement of delineation of genotype-phenotype correlation.