More symptom information
Learn more about specific symptoms of this leukodystrophy in these pages.
Also known as: Leigh Disease; subacute necrotizing encephalomyelopathy
Leigh Syndrome, also known as Leigh’s disease, is a rare genetic disorder affecting the central nervous system, particularly the brainstem and basal ganglia. It is characterized by impaired energy production within cells due to mutations in mitochondrial DNA or nuclear genes. Symptoms appear in infancy or childhood and include developmental regression, muscle weakness, seizures, and respiratory difficulties. Treatment mainly focuses on managing symptoms and providing supportive care to enhance the affected individual’s quality of life.
A new diagnosis can be overwhelming as it brings unique challenges and adjustments, but it is important to remember that you are not alone.
Leigh Syndrome can be caused by over 100 different genetic mutations found in either the nuclear or mitochondrial DNA and so it can be inherited in many different ways. The mutations which cause Leigh Syndrome disrupt protein complexes in this process, reducing or preventing their activity. All of the mutations disrupt the process of energy production by the mitochondria. One of the main jobs of mitochondria is to convert energy in food (carbohydrates and fats) into a form that can be used by the cell.
For more detailed information please visit our friends, The Lily Foundation, who have specific expertise in mitochondrial conditions, such as Leigh Syndrome.
Most commonly autosomal recessive but has been X-Linked in a small number of cases where inheritance is maternal due to a mitochondrial DNA mutation.
Autosomal recessive: In autosomal recessive conditions, two copies of the genetic mutation are needed to cause the condition. We all have two copies of every gene, one from our mother and one from our father. The parents of someone with an autosomal recessive condition both carry one copy of the gene with a genetic mutation. Therefore, someone with an autosomal recessive condition has two copies of the genetic mutation, one copy from each parent. Each child of parents that both carry the genetic mutation will have a 25% chance of having the condition, a 50% chance of carrying the genetic mutation (like the parent), and a 25% chance of not having the condition.
Genetic counselling is essential for affected families due to the inheritance pattern of the condition. This is available at hospitals and Regional Genetic Centres. Please contact your doctor if you have any questions.
Learn more about genetic testing and counselling here.
Leigh syndrome is a mitochondrial disease that affects approximately 1 in 40,000 newborns. It is a severe neurological condition that typically affects development of movement, posture and mental abilities. Onset is usually between the ages of 3 months and 2 years but in rare cases may begin in late adolescence or early adulthood. Although Leigh Syndrome primarily affects the brain, symptoms can be wide ranging and it is not uncommon to see other organs or systems involved including the heart, muscle, lungs, eyes, nervous system or gastrointestinal tract.
It is estimated that approximately 20% of cases of Leigh syndrome include leukodystrophy/white matter disease.
Learn more about specific symptoms of this leukodystrophy in these pages.
Although there is currently no specific treatment for this leukodystrophy, there is condition management information that may be useful for you in managing your or your loved one’s leukodystrophy.
There may be a current clinical trial, natural history study or patient registry for your condition. Check our current research page and ask your specialist doctor for more information.
We understand that research is a significant priority and source of hope for the leukodystrophy community. There is more research in leukodystrophy now than ever before. Alex TLC actively promotes and supports research in a number of ways.
Every month we update our database of research summaries with the most recent research. This includes summaries of leukodystrophy articles, clinical trials and pharmaceutical press releases. Our summaries allow our community to read about relevant recent research developments in a format that is easily understood.
Learn about the ways in which we can help in the how we support you section. When you or a family member been diagnosed with a leukodystrophy it may be difficult to know where to go for more advice – this information could help.
Our services and equipment section is here to help leukodystrophy patients and their families manage their condition. All information is based on our knowledge of UK services, however, our team are happy to receive support requests from other countries – email us.
You may be introduced to many different medical professionals which you may find confusing. View our guide to the health and care professionals you may encounter, with short descriptions about what they do.
We take great care in only selecting credible, useful links and resources, however we cannot be held responsible for the content of external websites or other sources.