Leigh's disease is characterized by degeneration of the person's central nervous system, to include their spinal cord, brain, and optic nerve. The symptoms people with the disease experience are associated with progressive neurological deterioration and can include the loss of motor skills they had previously acquired. The person can experience vomiting, a loss of appetite, irritability, as well as seizures. As Leigh's disease continues to progress, the person can also experience lack of muscle tone, generalized weakness, and episodes of lactic acidosis which may lead to kidney and respiratory impairments.
The symptoms of Leigh disease commonly develop within the first year of the person's life. On rare occasion they may develop later in childhood. Infants with the disease usually develop symptoms that include decreased muscle tone, balance or coordination difficulties, and vomiting. One of the main reasons parents seek medical attention for their child in relation to Leigh's disease is because their child is experiencing a failure to thrive and grow. The child will eventually begin to experience seizure activity as well as lactic acidosis and resulting kidney and respiratory impairments.
Some different eye abnormalities are also associated with Leigh's disease. Paralysis of some or all of the person's muscles of their eye, referred to as, 'Ophthalmoplegia,' is common, in combination with degeneration of their optic nerve, as well as pigmentary retinopathy, a disorder which will eventually lead to blindness.
Due to the cell's inability to produce ATP in person's with Leigh's disease their tissues are not provided with enough energy replenishment and usually perish. Because of this, irreversible damage may happen, first in cells that require more energy such as brain cells. This leads to mental impairments and developmental delays. A number of parts of the person's brain are affected by the lack of ATP and Leigh's disease, to include the person's basal ganglia which assist in regulation of motor performance; their brain stem, which controls functions such as swallowing, breathing, hearing and seeing; and their cerebellum, which controls their ability to balance and their voluntary muscle movements.
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