Individually though, these conditions are very rare. Mitochondrial disorders are frequently called mitochondrial encephalomyopathies and include the following conditions, as well as many others:. Mitochondrial disorders are genetic and sometimes run in families. They can cause a wide range of symptoms , from developmental delay and hearing loss to seizures, strokes, heart failure and diabetes, in differing combinations.
Multi-organ involvement is typical for these disorders. Sometimes it can appear abruptly when the child is challenged by another illness.
There is currently no cure for mitochondrial disease. They turn sugar and oxygen into energy that the cells need to work. In mitochondrial diseases, the mitochondria cannot efficiently turn sugar and oxygen into energy, so the cells do not work correctly.
There are many types of mitochondrial disease, and they can affect different parts of the body: the brain, kidneys, muscles, heart, eyes, ears, and others. Mitochondrial diseases can affect one part of the body or can affect many parts. They can affect those part s mildly or very seriously. Not everyone with a mitochondrial disease will show symptoms. However, when discussing the group of mitochondrial diseases that tend to affect children, symptoms usually appear in the toddler and preschool years.
A child with autism may or may not have a mitochondrial disease. More research is needed to find out how common it is for people to have autism and a mitochondrial disorder. Right now, it seems rare. In general, more research about mitochondrial disease and autism is needed. A: Encephalopathy is a medical term for a disease or disorder of the brain.
It usually means a slowing down of brain function. Regression happens when a person loses skills that they used to have like walking or talking or even being social. A diagnosis of mitochondrial disease can, understandably, be devastating.
There will be many questions and emotions. This page aims to provide information and support for New Zealanders affected by 'mito', along with their family and friends. This page aims to provide information and support for New Zealanders affected by mito, along with their family and friends. There are Mitochondria in every cell in our body. They are the tiny parts of our cells that are responsible for making energy - the 'powerhouse' or battery of the cell. Through a series of complex chemical reactions, they turn glucose and oxygen into an energy chemical called ATP.
This chemical process is called oxidative phosphorylation. They also produce energy from fat fatty acid oxidation. When the mitochondria don't work properly, the cell has a power failure and the affected organ begins to shut down. This power failure is called mitochondrial disease.
Mitochondrial disease or Mito is caused when our mitochondria are not working properly. Mitochondrial dysfunction can result in damaged cells and organ failure. The damage can be triggered when the body is under significant stress, such as during illness. Mito can be a degenerative disease that usually targets the parts of our body that require the most energy such as the brain, heart, kidneys and muscles, but any organ system at any age can be affected.
At present, there is no cure for mitochondrial disease. The severity of Mito symptoms differs from person to person, even within the same family. Everyone's journey is different. Many people will have multi-organ disease. In babies, the brain is often involved. Some symptoms might be:. A person with Mito may look 'normal' but face great challenges and potential health issues due to their condition.
All of the proteins in our body are made from our DNA - our genetic material that makes us human. We have 2 types of DNA:. There is no easy test to diagnose mitochondrial disease. Reaching a diagnosis often requires putting pieces of a jigsaw puzzle together. Many symptoms of Mito are similar to those of other illnesses. Symptoms may be erratic, at first subtle, further complicating the journey to diagnosis. Clinical and radiological features, blood, urine and other biochemical tests can strongly suggest mitochondrial disease.
DNA testing, and to a lesser extent, muscle biopsies are usually required to confirm Mito. Sometimes a specific genetic diagnosis cannot be achieved so a diagnosis of 'suspected mitochondrial disease' is made based on all of the clinical and biochemical features. Our understanding of the genetic basis of Mito is growing all the time.
A specific genetic diagnosis can help families understand the condition better, know what to expect for the future and help them make decisions about future pregnancies. Living with mitochondrial disease can be very challenging and demanding physically, psychologically, and emotionally for the person affected, their friends and family. There are currently no medically proven treatments for Mito.
However there are some clinical trials, and there is some promising research underway for some diseases.
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