Leigh disease
Leigh disease (pronounced: lee) is a severe neurological disorder that typically becomes apparent in the first year of life. This condition is characterized by progressive loss of mental and movement abilities (psychomotor regression) and typically results in death within two to three years, usually due to respiratory failure. A small number of individuals do not develop symptoms until adulthood or have symptoms that worsen more slowly.
Etymology
The disease is named after Archibald Denis Leigh, a British psychiatrist and neuropathologist who first described the condition in 1951.
Symptoms
The first signs of Leigh disease, which often occur during infancy, may include poor sucking ability, loss of head control and motor skills, loss of appetite, vomiting, and seizures. As Leigh disease progresses, symptoms may also include general weakness, lack of muscle tone, and episodes of lactic acidosis, which can lead to impairment of respiratory and kidney function.
Causes
Leigh disease can be caused by mutations in one of over 75 different genes. Most of these genes are involved in mitochondria, which are the energy-producing centers within cells. Mutations in these genes reduce or eliminate the function of enzymes that are necessary for energy production, leading to cell death in the most energy-demanding tissues, such as the brain and muscles.
Diagnosis
Diagnosis of Leigh disease involves a thorough clinical evaluation, detailed patient history, and a variety of specialized tests. These tests may include blood tests, urine tests, lactic acid measurements, and molecular genetic testing. Imaging techniques, such as MRI or CT scan, may also be used to detect brain abnormalities.
Treatment
There is currently no cure for Leigh disease. Treatment is symptomatic and supportive, and may include therapies to manage movement difficulties, address feeding and nutrition issues, and treat other health problems.
Prognosis
The prognosis for individuals with Leigh disease is generally poor. Most individuals with Leigh disease die within a few years, usually due to respiratory failure.
See also
External links
- Medical encyclopedia article on Leigh disease
- Wikipedia's article - Leigh disease
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