After decades of research, it is now known that Leigh syndrome belongs to a class of disorders known as mitochondrial disorders. Leigh syndrome was first described in 1951 by the British psychiatrist Denis Archibald Leigh as a complex and incurable neurodegenerative disease, with onset during infancy, called subacute necrotizing encephalomyelopathy (SNE). For more information about the signs and symptoms of Leigh syndrome, as well as an explanation of the genetic underpinnings of the disease, in-depth overviews can be found from Bakare et al., 2021 and Rahman, 2023. Most children with Leigh syndrome do not survive past the age of 3 years old. Heart complications (e.g., cardiomyopathy, arrhythmias)Ĭurrently, the prognosis for this disease is poor and the disease is typically fatal.Impaired breathing (respiratory) function.Buildup of lactate in the body (lactic acidosis).Paralysis of the eye muscles (external ophthalmoplegia).Leigh syndrome can progress rapidly and present with a diverse range of symptoms, which may include, but are not limited to: ![]() Many people with Leigh syndrome begin experiencing symptoms before 24 months of age, though late childhood and adult disease onset have also been reported. The National Library of Medicine reports an estimated incidence of the disease as 1 in 40,000 newborns. The exact prevalence of Leigh syndrome is not known because some cases receive alternative diagnoses or are classified broadly as mitochondrial disease. This disorder often begins in infancy or early childhood and causes brain abnormalities that can cause developmental delays and a variety of debilitating symptoms.
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