For patients
Discover the latest information, resources, and support available to help you navigate life with mitochondrial disease.
What is Mitochondrial Disease?
Mitochondrial disease is an umbrella term for a group of rare genetic disorders that affect the mitochondria. When the mitochondria do not function properly, your cells do not get the energy they need, leading to various health problems. This can affect any part of your body, but it often impacts organs and tissues that need a lot of energy, like your brain, muscles, heart, and liver.
Recent research shows 1 in 200 people, or more than 120,000 Australians, may carry genetic changes that put them at risk for developing mitochondrial disease. Put another way, up to 30 children born in Australia each week – or 1540 children a year – are at risk for developing a mild to moderately disabling form of mitochondrial disease, while at least one Australian child born each week – or 62 children every year – will develop a severe or life-threatening form of mitochondrial disease (1 in 5000 people), making it the second most commonly diagnosed serious genetic disease after cystic fibrosis, which has an incidence of around 1 in 3500 people. Mitochondrial disease can show up in many different ways because it can affect different parts of the body. Here are some common symptoms:
Fatigue and Weakness
You might feel unusually tired or weak, even after a good night’s sleep.
Muscle Problems
This can include muscle weakness, cramps, or exercise intolerance.
Neurological Issues
These might include seizures, developmental delays, or learning difficulties.
Heart and Liver Problems
Some people may have issues with their heart or liver.
Digestive Problems
Because mitochondrial disease affects people differently, it can be challenging to diagnose.
Symptoms might mimic other health issues, and sometimes it takes years to get the right diagnosis.
Because mitochondrial disease affects people differently, it can be challenging to diagnose.
Symptoms might mimic other health issues, and sometimes it takes years to get the right diagnosis.
Living with Mitochrondria
Living with mitochondrial disease can be challenging, but there are steps you can take to improve your quality of life. Here are some ways to manage the condition:
Regular Monitoring
Ongoing medical care is crucial to manage symptoms and prevent complications.
Healthy Lifestyle
Eating a balanced diet, getting enough rest, and avoiding stress can help.
Support Networks
Connecting with others who have mitochondrial disease can provide emotional support and practical advice.
Ongoing search for a cure
While there is currently no cure for mitochondrial disease, research is ongoing. Scientists and doctors are working hard to find better treatments and, one day, a cure. With advancements in genetic testing and new treatments being developed, there is hope for improved quality of life for those affected by mitochondrial disease.
At the Australian Mitochondrial Disease Centre, we are committed to providing the best care, support, and information to patients and their families. We are here to help you navigate this journey with the latest research, expert care, and a compassionate community.