AUG 14, 2018 6:11 AM PDT

What is Leigh Syndrome?

While neurological conditions such as Alzheimer's disease, ALS, Parkinson's and glioblastomas are frequently studied, other disorders are not as well researched. Leigh syndrome is one of these conditions.

It is a rare genetic neurometabolic disorder. In the United States, the incidence of Leigh syndrome is about one in 40,000 live births. It's genetic and is caused by mutations in genes involved with cell metabolism. In some cases, there is a mutation on the mitochondria of one's DNA and can be passed down to children as either a recessive or dominant gene.

It usually presents in the first year of life but can show up later. The symptoms all relate to the central nervous system and include a loss of acquired motor skills, a lack of muscle tone, and irritability, and general weakness. Since the mutations that can cause it often occur in the energy sources of cells, the mitochondria, the disease impacts cell respiration and can result in kidney disease, lactic acidosis, and other metabolic conditions.

Since it is so rare, information and research are hard to come by. It also shares symptoms with many other developmental delays in children, most of which are far common. Very often parents will find it difficult to get an accurate diagnosis. On an MRI scan, Leigh syndrome shows up as dark spots on brain tissue, which look like evidence of a stroke or brain bleed, which further complicates getting the diagnosis correct.

Once the disease has begun to progress, it can take over. Kidney function is impaired, respiratory problems develop and because most patients are very young at onset, they cannot communicate symptoms well. It can affect vision as well, including crossed eyes and rapid deterioration of eye muscles and the optic nerve. Finally, heart problems are common in children with Leigh syndrome, including an enlarged heart, problems with the pericardial sac and fibrous overgrowth in the valves of the heart. Leigh syndrome is fatal, with most deaths occurring in childhood. Rarely patients will survive until adolescence or early adulthood.

While it's rare in the United States, there are two specific populations where the disease is much more common. For example, the condition occurs in approximately 1 in 2,000 newborns in the Saguenay Lac-Saint-Jean region of Quebec, Canada. In the Faroe Islands off Norway, the incidence is about 1 in 1700 births. The higher prevalence in these populations is likely due to a lack of genetic diversity.

In the video below, see how one family is dealing with the diagnosis of Leigh syndrome. They live near Dallas and will be part of a new research study on gene therapy for Leigh's. Check out their story and what further treatment options might be available in the future.

Sources: National Organization for Rare Disorders Genetics Home Reference, US National Library of Medicine

About the Author
  • I'm a writer living in the Boston area. My interests include cancer research, cardiology and neuroscience. I want to be part of using the Internet and social media to educate professionals and patients in a collaborative environment.
You May Also Like
SEP 11, 2020
Cannabis Sciences
Frequent Cannabis Use Does Not Increase Pain Sensitivity
SEP 11, 2020
Frequent Cannabis Use Does Not Increase Pain Sensitivity
Researchers from the University of British Columbia have found that frequent cannabis use is not associated with increas ...
SEP 24, 2020
Health & Medicine
Extreme Isolation can Cause Physical Brain Changes
SEP 24, 2020
Extreme Isolation can Cause Physical Brain Changes
By this point in the year, you’ve either heard or uttered the phrase “quarantine brain.” While the act ...
OCT 07, 2020
Neuroscience
Researchers Discover Molecular Mechanism for Memory Formation
OCT 07, 2020
Researchers Discover Molecular Mechanism for Memory Formation
Researchers from MIT have found that when the brain forms a new memory, neurons known as 'engram cells' encode t ...
OCT 13, 2020
Cell & Molecular Biology
A Small Part of the Brain May Transmit Inflammation From Mom to Fetus
OCT 13, 2020
A Small Part of the Brain May Transmit Inflammation From Mom to Fetus
There is still a lot we don't know about the brain, and especially about two small bits of tissue deep within it called ...
NOV 01, 2020
Neuroscience
High Fat Diet Could Prevent Anorexia Deaths
NOV 01, 2020
High Fat Diet Could Prevent Anorexia Deaths
Researchers from Yale University have homed in on a specific kind of neuron that appears to play a sizable role in fatal ...
NOV 20, 2020
Drug Discovery & Development
Cat Parasite Gives Clues on New Drug Targets for Schizophrenia
NOV 20, 2020
Cat Parasite Gives Clues on New Drug Targets for Schizophrenia
Researchers from the UK and France have discussed a mechanism of action behind the infamous Toxoplasma gondii  ...
Loading Comments...