Thelansis

  Leigh's syndrome, a rare inherited neurometabolic disorder affecting the central nervous system, typically emerges in infants aged three months to two years. However, it can infrequently arise during adolescence or early adulthood. Symptoms usually manifest before 12 months, but they may appear later in exceptional cases. Common initial symptoms include the loss of motor skills, hypotonia with poor head control, recurrent vomiting, and movement difficulties. Subsequently, pyramidal and extrapyramidal signs, nystagmus, breathing problems, ophthalmoplegia, and peripheral neuropathy may develop. Epilepsy is relatively uncommon. The syndrome causes problems with aerobic energy production, ranging from the pyruvate dehydrogenase complex to the oxidative phosphorylation pathway. Most mutations are in the nuclear genome, affecting genes related to the pyruvate dehydrogenase complex, respiratory complexes I or II, or proteins involved in respiratory complex IV assembly. Some individual...