By Kayleigh Burns
Leigh syndrome (LS), a neurological disorder among infants that causes patients to lose their mental and movement abilities; it affects the central nervous system, leading to patients only surviving for two to three more years [1]. Symptoms include (for babies): throwing up, diarrhea, trouble swallowing, and movement problems. Furthermore, symptoms can also expand to patients experiencing involuntary eye movement, breathing problems, hypotonia (loss of muscle tone), and hypertrophic cardiomyopathy (heart muscle becomes thick) [2]. These symptoms happen due to damaged tissue inside the brain. Some patients may not even experience symptoms until later on in life, as LS usually takes place in infants [3].
Leigh syndrome is considered to be quite rare, affecting only 1 in 40,000 newborns. However, it seems as though the number of infants it affects varies depending on location. For example, in Quebec, Canada, this neurological disorder tends to affect every 1 in 1,700 infants due to mutations within genes [2]. The genes that become affected typically take place in energy production, as Leigh syndrome influences proteins. This is just one of the countless mutations that may occur when experiencing Leigh syndrome. Leigh syndrome can also take place because of the infant’s mother. Some patients have the possibility of inheriting the disorder from mitochondrial DNA [2].
To be diagnosed, a patient must undergo a clinical evaluation. Tests such as an MRI, a CT, and urine and blood tests are to be conducted [2]. By looking at the brain, doctors would be able to notice anything abnormal. There are two forms of Leigh syndrome, with one being known as mtDNA-associated Leigh syndrome, while the other is nuclear gene encoded LS. The difference between these two is that the first has mutations within mtDNA. In order to determine which form of disorder the patient has, molecular genetic testing needs to be carried out [2].
Treatments for LS help lower the intensity of the symptoms a patient experiences. Physicians can provide thiamine (important for nerve function) and in some cases offer a diet plan that can improve the situation [1,3]. Thiamine causes some improvement in the patient’s health, but this improvement is not permanent [3]. Currently, there is no cure for Leigh syndrome.
There are numerous clinical trials occurring throughout the world in hopes to find better treatment for patients. In Houston, Texas, a Health Science Center is working with current patients experiencing LS to find out more information about the disorder [1]. The information they are able to find will aid in future clinical trials. In addition to this, researchers are studying dichloroacetate to determine whether it will better patients’ lifestyles [1]. Although there is currently no final cure for LS, researchers hope to become closer to finding a cure.
References
Leigh's Disease Information Page. (n.d.). Retrieved November 05, 2020, from https://www.ninds.nih.gov/Disorders/All-Disorders/Leighs-Disease-Information-Page
Leigh syndrome: MedlinePlus Genetics. (2020, September 08). Retrieved November 05, 2020, from https://medlineplus.gov/genetics/condition/leigh-syndrome/
Leigh Syndrome. (2017, August 01). Retrieved November 05, 2020, from https://rarediseases.org/rare-diseases/leigh-syndrome/