Leigh syndrome is a rare genetic neurometabolic disorder that typically starts during infancy. It can have a poor outlook and severely reduce life expectancy.

Leigh syndrome affects the central nervous system. The condition typically occurs in infants and toddlers. It can progress rapidly and cause a loss of motor skills and abilities.

Read on to learn more about how Leigh syndrome can affect life expectancy.

This article also looks at age of onset, symptoms, and more.

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Leigh syndrome causes a reduced life expectancy.

A 2014 study examined 130 children with Leigh syndrome. At the time of the study, 53 were alive and 51 were deceased. 26 were lost to follow-up, which means that it was not possible to obtain information on those participants.

The median age at death of the deceased children included in the study was 2.4 years. The median length of time from syndrome onset to death was 1.8 years.

The three main causes of death of the children included in the study were:

  • respiratory complications (51%)
  • progression of Leigh syndrome (17.6%)
  • infection (17.6%)

Another study from 2020 had similar results. The Japan-based study looked at children with Leigh syndrome. At the time of the study, 124 children were alive and 40 deceased.

It reported the median age of living children was 8 years. It also reported a median length from the onset of the condition at 91 months for living patients and 23.5 months for deceased patients.

The researchers found that infants with the onset of Leigh syndrome before 6 months of age had worse outcomes than those with later onset, with all early onset infants either deceased or bedridden at the time of the study.

In the study, the median age of death occurred at 31.5 months of age, though the majority (9 deaths) occurred at 1 year of age rather than other ages. Most children died by 6 years of age.

Another 2020 study concluded that early onset Leigh syndrome has a worse outlook than later onset of the condition. Late-onset Leigh syndrome is rare.

The study also noted that differences in treatment methodologies can help improve outcomes. It found that the average length of time from onset of the condition to death was 83 months, or about 7 years. It noted this is longer than previous averages of about 5 years.

The majority of cases of Leigh syndrome start before the age of 2 years, according to a 2020 study. It often begins between 3 months and 2 years.

In rare cases, older children, teens, or adults may develop Leigh syndrome. People with later-onset Leigh syndrome often have a better outlook.

The 2020 study noted that about 71% of those with early onset Leigh syndrome experienced either clinically critical symptoms or death, while about 71% with late-onset Leigh syndrome had clinically mild to moderate severity in their symptoms.

Leigh syndrome progresses quickly.

The symptoms an infant or older child may experience include:

  • continuous crying
  • poor sucking ability
  • lack of appetite
  • vomiting
  • loss of head control and motor skills
  • irritability
  • seizures

As the condition progresses, an infant or older child may show additional symptoms, such as:

There is currently no proven treatment for Leigh syndrome. Doctors will likely base their treatment decisions on open label studies, observations, and case reports.

In the 2020 study, researchers noted that multidisciplinary approaches to treatment may help improve outcomes for infants and older children with Leigh syndrome. This can include frequent monitoring of the condition, as well as the use of different medications.

Medications they suggest for use include:

  • coenzyme Q or other supplements
  • artificial electron acceptors, such as vitamins C and K
  • metabolites and cofactors, such as thiamin, riboflavin, and carnitine

The most common current treatment for Leigh syndrome is thiamin, or vitamin B1.

Other possible treatment options a doctor may use include sodium bicarbonate or sodium citrate to manage lactic acidosis. Doctors may also recommend a high-fat, low-carbohydrate diet for those with X-linked Leigh syndrome. X-linked Leigh syndrome happens when there are mutations in a gene on the X chromosome.

Parents or caregivers may want a child to participate in clinical trials to help researchers discover more about the condition and learn about treatment research.

Leigh syndrome is a rare disorder. It affects an estimated 1 in 40,000 live births. It typically presents in children aged under 2 years.

Adult-onset Leigh syndrome is very rare.

Leigh syndrome is a rare progressive neurometabolic condition that generally reduces life expectancy. When it occurs in children less than 2 years old, it typically results in death within a few months to years.

Leigh syndrome that develops in older children or adults is less common, but it has a better outlook.

Treatment may consist of vitamin B1, but no current standard for treatment currently exists. Studies continue to look for better treatment options.