Leigh’s Disease

What is Leigh’s Disease?

Leigh’s Disease is also known as juvenile subacute necrotizing encephalomyelopathy, Leigh syndrome, infantile subacute necrotizing encephalomyelopathy, and subacute necrotizing encephalomyelopathy (SNEM) and is a rare inherited neurometabolic disorder that affects the central nervous system.

This is a progressive disorder that begins in infants between the ages of three months and two years and is rarely seen in teenagers and adults. The disease is named after a British neuropsychiatrist named Archibald Denis Leigh who first described the condition in 1951. Leigh’s disease can be caused by deficiencies of an enzyme called pyruvate dehydrogenase or by mutations in mitochondrial DNA.

What are the Symptoms of Leigh’s Disease?

Symptoms usually progress rapidly and may include poor sucking ability and the loss of head control and motor skills. Additional symptoms may include irritability, loss of appetite, vomiting, seizures, continuous crying, lack of muscle tone, generalized weakness, and episodes of lactic acidosis.

The muscles that control the eyes become weak, paralyzed, and uncontrollable in conditions called ophthalmoparesis (paralysis or weakness) and nystagmus (involuntary eye movements). The lungs and heart can also fail as a result of Leigh’s disease. Hypertrophic cardiomyopathy (thickening of a portion of the heart muscle) is sometimes found and can lead to death. Respiratory failure is the most common cause of death among those with Leigh’s disease.

How is Leigh’s Disease Treated?

Includes the use of thiamine or Vitamin B1 if a deficiency of pyruvate dehydrogenase is suspected. A high-fat low carbohydrate diet may be recommended if a gene on the X chromosome is implicated in a person’s Leigh syndrome.

Last Reviewed:
October 06, 2016
Last Updated:
October 23, 2017