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About Leigh Syndrome

Leigh syndrome is a severe neurological disorder that is usually identified within the first year or so of life. Leigh syndrome can be caused by mutations in one of more than 75 different genes. Sadly, most who are diagnosed with Leigh syndrome will not live more than two to three years. Those with only partial deficiencies have a better prognosis, and may live to be 6 or 7 years of age. Death will usually result from respiratory failure.

Classic symptoms of Leigh syndrome that are seen during infancy include:

1. Diarrhea
2. Vomiting
3. Dysphasia (difficulty swallowing)

These problems together often result in the inability to properly grow and gain weight, this is referred to as FTT (failure to thrive). Other common problems from Leigh syndrome include:

1. Hypotonia (weak and low muscle tone)
2. Dystonia (involuntary muscle contractions)
3. Ataxia (movement and balance problems)
4. Peripheral Neuropathy (sensation of weakness in the limbs)
5. Ophthalmoparesis (paralysis of the muscles that move the eyes )
6. Severe breathing and respiratory problems
7. hypertrophic ardiomyopathy (thickening of the heart muscle)

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