The symptoms of Leigh syndrome normally manifest in the first few years of life and vary depending on which parts of the central nervous system are affected. The symptoms include hypotonia, psychomotor regression, ataxia, abnormalities in ocular movement, seizures, dystonia, swallowing dysfunction, and respiratory disturbances [ 48 , 49 ].

Leigh syndrome is often associated with severe cardiovascular and neurological abnormalities. The phenotypic data in these mice strengthen the link between that particular point mutation and the observed phenotype, consistent with human clinical observations that T9191C can lead to Leigh syndrome with pronounced cardiac manifestations.

Leigh syndrome symptoms include developmental delay, hypotonia, motor and respiratory issues, eye movement disorders, facial dysmorphism, seizures and ataxia 8.

These mutations are relatively rare in the population but can cause severe clinical symptoms, such as Leigh syndrome and Leber’s hereditary optic neuropathy (LHON). Due to the lack of suitable animal models, research and treatment progress in mitochondrial diseases have been limited. Therefore, developing animal models that can precisely ...

G31.82 - Leigh's disease The above description is abbreviated. This code description may also have Includes , Excludes , Notes, Guidelines, Examples and other information.