More symptom information
Learn more about specific symptoms of this leukodystrophy in these pages.
Mitochondrial (mito) disease is an umbrella term for a group of rare genetic diseases where the mitochondria (known as the powerhouse of cells) are not providing enough energy for cells to function properly. Several different genes can cause these conditions. Every person is affected differently as they will have different combinations of working and not working mitochondria. As the disease can affect any organs depending on which cells are affected, there is a wide variety of symptoms and severity. Treatment mainly focuses on managing symptoms and providing supportive care to improve the 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.
Mitochondrial Diseases are genetic and further discussed in the inheritance section below. Several different genes which cause Mito Disease are known but others are unknown. 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. The mutations result in mitochondria (known as the powerhouse of cells) unable to provide enough energy for cells to function properly and affect the function of organs or organ systems.
Nature has created an animated video about Mitochondrial Disease to help explain what mitochondria are and how their dysfunction leads to these conditions, click here to view it.
We have two different types of DNA, nuclear DNA and mitochondrial DNA (mtDNA) and either can have a mutation that causes Mitochondrial Disease.
Mitochondrial DNA consists of 37 genes that are maternally inherited (from mother) and nuclear DNA consists of 46 chromosomes that are inherited from both mother and father (23 each) which contain between 20,000-25,000 genes.
Therefore, Mitochondrial Diseases can be inherited in several ways including, autosomal recessive (both parents have the mutation), autosomal dominant (one parent has the mutation), X-linked (mutation on the X chromosome), maternally (from the mitochondria), and sporadically (mutation that is not inherited from the parents). To find out more visit: Inheritance – Rare Mitochondrial Disorders Service
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.
There is a large variety of symptoms those with mitochondrial disease can experience and can depend on how many cells and which cells are affected in the body. Any organs and systems in the body can be affected including the brain, heart, muscles, kidney, liver, and digestive system and either a single organ or several can be affected. Symptoms may include seizures, fatigue, vision and hearing loss, cognitive disabilities, muscle weakness, respiratory problems or poor growth. Some may experience mild symptoms or symptoms that progress slowly while others may have severe symptoms that progress quickly. Symptom onset can present at birth or arise at any age.
Some mitochondrial diseases are also considered leukodystrophies due to presentation of white matter changes such as Leigh Syndrome, MELAS, LHON, MNGIE, and Kearns-Sayre Syndrome. To find out more about specific mito conditions, visit: Disease Information – Rare Mitochondrial Disorders Service
The mito foundation created this image that shows organ systems that are commonly affected and some common symptoms.
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 ones 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.
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