Sindrome De Leigh

Leigh disease, also known as Subacute Necrotizing Encephalomyelopathy (SNEM), is a rare neurometabolic disorder that affects the central nervous system. It is named after Archibald Denis Leigh(1916-1998), a British psychiatrist who first described the condition in 1951.[1]
Causes
It is an inherited disorder that usually affects infants between the age of three months and two years, but, inrare cases, teenagers and adults as well. In the case of the disease, mutations in mitochondrial DNA (mtDNA) or in nuclear DNA (gene SURF1[2] and some COX assembly factors) cause degradation of motorskills and eventually death.
Mitochondria are an essential organelle in eukaryotic cells. Their function is to convert the potential energy of glucose, amino acids, and fatty acids into adenosinetriphosphate (ATP). Mitochondria carry their own DNA, called mitochondrial DNA [mtDNA]. The information stored in the mtDNA is used to produce several of the enzymes essential to the production of ATP.Disorders of oxidative phosphorylation may be caused by mutations in either mtDNA or in nuclear encoded genes. The latter account for the majority of Leigh disease, although it is not always possible toidentify the specific mutation responsible for the condition in a particular individual.
Regardless of the genetic basis, the effect is that mitochondria fail or function improperly. In the case ofLeigh disease, crucial cells in the brain stem and basal ganglia are affected. This causes a chronic lack of energy in the cells, which, in turn, affects the central nervous system and inhibits motorfunctions.
Signs and Symptoms
The disease is characterized by movement disorders. In one case review, 22 of 34 patients had evidence of a movement disorder. Dystonia, occurring in 19 patients, wasthe most common movement disorder. The dystonia was usually multifocal at onset and showed progression in six patients. Rigidity, tremor, chorea, hypokinesia, myoclonus, and tics were also noted...