This fact sheet provides information about Leigh Syndrome, its frequency, signs and symptoms and treatment.
Leigh Syndrome is a genetic neurological disorder characterised by a progressive decline in cognitive and movement abilities. Typically, the diagnosis becomes evident within the first year of life, and usually results in death within 3 years due to medical complications associated with the syndrome.
The cause of Leigh Syndrome is a problem in any of more than 75 different genes, which are involved in the process of energy production for the body to function.
Frequency
Leigh syndrome affects approximately 1 in 40, 000 newborns.
Signs and Symptoms
As Leigh syndrome is a progressive disease symptoms change over time.
Early symptoms:
- Vomiting, diarrhoea, and problems with swallowing that leads to failure to thrive (inability/difficulty growing and gaining weight at the expected rate) in infancy
- Loss of head control and motor skills
- Seizures
As the condition progresses:
- Decreased muscle tone (weakness)
- Involuntary muscle contractions
- Balance issues
- Eye problems such as involuntary eye movements, or degeneration of some of the nerves in the eyes
- Severe breathing problems, which can lead to respiratory failure
Treatment
There is no cure for Leigh syndrome, and management is aimed at symptom relief. Some areas of supportive care include:
- Medication to treat/prevent seizures, and problems with muscle tone
- Regular monitoring by specialists such as neurologist (brain doctor), ophthalmologist (eye doctor), and cardiologist (heart doctor).
References
Leigh syndrome. (2019). Retrieved from https://ghr.nlm.nih.gov/condition/leigh-syndrome#diagnosis
Leigh syndrome. (2019). Retrieved from https://rarediseases.info.nih.gov/diseases/6877/leigh-syndrome
Leigh syndrome. (2019). Retrieved from https://rarediseases.org/rare-diseases/leigh-syndrome/
