描述
Leigh’s disease (Encephalopathy), a form of Leigh syndrome, also known as Subacute Necrotizing Encephalomyelopathy (SNEM), is a rare neurometabolic disorder that affects the central nervous system. It is an inherited disorder that usually affects infants between the age of three months and two years, but, in rare cases, teenagers and adults as well. In the case of the disease, mutations in mitochondrial DNA (mtDNA) or in nuclear DNA (gene SURF11 and some COX assembly factors) cause degradation of motor skills and eventually death. Leigh syndrome is caused by defects in many mitocondrial and nuclear encoded genes involved in energy metabolism, resulting in accumulation of L-Alanine and in plasma and urine. Symptoms include dystonia, ataxia, encephalopathy, muscle weakness, and tremor or twitching.