This fact sheet provides information about Leigh Syndrome, its frequency, signs and symptoms and treatment.

 

Leigh syndrome

 

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/