Read more about this disease, some with Classification – Types – Signs and symptoms – Genetics – Pathophysiology – Diagnosis – Screening – Prevention – Treatment and management – Cures and much more, some including pictures and video when available.
Leigh’s disease, 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 SURF1[1] and some COX assembly factors) cause degradation of motor skills and eventually death.
Mitochondria are some of the most important organelles in animal cells as they provide energy for the cell’s function. In humans, their primary function is to convert the potential energy of glucose, amino acids, and fatty acids into that of adenosine triphosphate (ATP). The energy in ATP is then used to carry out virtually all of the cell’s metabolic functions. Mitochondria are also unique in that they carry their own type of DNA, mitochondrial DNA. The information stored in the mtDNA is used in the creation of new mitochondria.
When improper mutations of the mtDNA cause the mitochondria to fail to function properly, a person is at risk for number of disorders, including Leigh’s disease. In the case of Leigh’s disease, crucial cells in the brain stem have mutated mtDNA, creating poorly functioning mitochondria. This causes a chronic lack of energy in the cells, which, in turn, affects the central nervous system and inhibits one’s motor skills.
The disease is most noted for its degradation in one’s ability to control one’s movements. As it progresses rapidly, the earliest signs may be poor sucking ability and loss of head control and motor skills. Other symptoms include loss of appetite, vomiting, irritability, continuous crying (in infants), and seizures. A later sign can also be episodes of lactic acidosis, which can lead to impairment of respiratory and kidney function. Some children can present with loss of development skills or developmental regression and have often had investigations for failure to thrive. As the disease progresses in adults, it may also cause general weakness, kidney failure, and heart problems. Life expectancy is usually about a year within the onset of symptoms although both acute fulminating illness of a few days and prolonged survival have been reported.
Leigh’s disease is a very rare disorder, and there is currently no cure. It usually affects infants under two years of age, but, in rarer cases, teenagers and adults as well. A high-fat, low-carbohydrate diet may be recommended. Adults may have puffiness and/or swelling of the eye area and the hands. It is currently treated with thiamin (vitamin B1), but even with treatment, infants rarely live longer than two or three years after the onset of the disease. In cases of older people, the disease takes longer, but is still almost always fatal.
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