Symptoms of mitochondrial disease commonly misdiagnosed

At least 30 Australian children (1 in 200) born every week are at risk of developing some form of mitochondrial disease in their lifetimes, yet 90% of affected people are misdiagnosed, undiagnosed or may unknowingly pass the debilitating and potentially fatal disorder on to their unborn children.

The Australian Mitochondrial Disease Foundation (AMDF) is urging doctors and other healthcare practitioners to learn more about ‘mito’ during Global Mitochondrial Disease Awareness Week from 18-25 September, which features a Medical Symposium on mitochondrial health and cancer, diabetes and Parkinson’s, and fundraising activities including National Stay in Bed Day.

Mitochondrial disease is a complex genetic disorder that starves the body’s cells of energy, depriving muscles and major organs of the power they need to thrive and function properly.

AMDF CEO Sean Murray said mitochondrial disease was thought to be rare (1 in 20,000 people) until the 1990s, but research shows it is in fact 100 times more prevalent and is now recognised as the most common subgroup of inherited metabolic disorders.

“Severe, life-threatening cases are most likely to be diagnosed, but many more Australians suffer with mild to moderately disabling mitochondrial disease and may present to their GP with multiple, complex symptoms that don’t seem to add up,” Mr Murray said.

“Low energy levels and exercise intolerance are common signs of mito, but it can cause any symptom in any organ at any age. Depending on which organs are affected and to what extent, sufferers may have sight or hearing impairments; suffer muscle weakness and pain; be unable to walk, eat, swallow or talk normally; have strokes or seizures; develop liver disease or diabetes; or suffer heart, respiratory or digestive problems, developmental delays or intellectual disability.

“Many patients undergo years of tests and doctors’ visits before they get a correct diagnosis because of the widespread range, type and severity of symptoms and varying onset of mito.

“Unfortunately, there is no cure and few effective treatments for mito. However, early diagnosis and intervention means doctors can help patients manage their symptoms, advise on nutrition and exercise to support their mitochondria and improve quality of life, and perhaps slow the insidious progression of their disease. Many patients also tell us about the relief they feel in finally knowing what is causing their myriad health problems and that it’s not ‘just in their mind’.

“Awareness of how to support good mitochondrial health can benefit everyone, not just patients with mito. Researchers increasingly believe mitochondrial dysfunction is a significant factor in many age-related disorders, major diseases and chronic degenerative conditions.

“We urge healthcare practitioners to update their knowledge about mitochondrial disease, visit our website for resources, call our helpline and refer patients to the AMDF for support,” he said.

Practitioners and patients are invited to attend the free AMDF Symposium in Sydney on 22 September, when experts will discuss the latest insights into links between mitochondrial dysfunction and mitochondrial disease, Parkinson’s disease, diabetes and cancer; new IVF techniques to enable affected women have children free of mito; and how everyone can take care of their mitochondrial health. Visit amdf.org.au or call 1300 977 180.

Other events to mark Global Mitochondrial Disease Awareness Week (gmdaw.org) include:

• National Stay in Bed Day– a ‘Sleep-in to Cure Mito’ – when Australians can lie-in guilt-free on Sunday 25 September by donating at stayinbedday.org.au or organising or supporting pyjama parties at their workplace or school on the day or during spring.

People can also become a Stay in Bed Day hero by being sponsored to sleep in or sharing the stories of people affected by mitochondrial disease, featured on the website.

• Light Up for Mito, when major landmarks will be lit green, including: the Melbourne Star and Perth’s Council House on 18 September, and Brisbane’s Story Bridge and Adelaide Oval on 19 September.

People are also encouraged to replace their porch light with a green bulb, post photos to the Global Mitochondrial Disease Awareness Week Facebook page or tweet #lightupformito.

• The Bloody Long Walk in Perth on Sunday 25 September, one of seven 35km fundraising ‘walks to cure mito’ from August to November (bloodylongwalk.com.au)

More about mitochondrial disease

AMDF CEO Sean Murray said mitochondria are the powerhouses within our cells that transform food and oxygen to generate 90 per cent of the energy fuelling our bodies, particularly muscles and major organs like our brain, heart, liver, ears and eyes.

“Lifestyle and environmental factors damage our mitochondria and make them less effective over time, so mitochondrial dysfunction is a significant factor in a range of major diseases and is a key reason humans develop age-related health problems and have a finite lifespan.

“People with mitochondrial disease have genetic mutations that predispose their mitochondria to fail prematurely, so they may develop mitochondrial disease symptoms anytime in their lives.

“Mitochondrial disease can affect both children and adults; due to its genetic basis, the disease often affects multiple family members. Mito can be inherited from a person’s mother, father or both parents, or can arise as a spontaneous genetic mistake at conception.

“A new IVF technique offers hope for women likely to pass on maternally inherited mitochondrial disease to their baby. Called mitochondrial donation, the technique transplants a small number of healthy cells from a donor egg to replace the mother’s faulty mitochondrial DNA. Mitochondrial donation has been approved in the United Kingdom, but Australian laws need to change to give affected women the choice to access the technique here.”

(Source: Australian Mitochondrial Disease Foundation)