Neurologists release Australian guidelines for mitochondrial diseases

Movement disorders

By Michael Woodhead

13 Sep 2021

Neurologists have developed consensus-based standards of care for the diagnosis and management of mitochondrial diseases, with an emphasis on clinical management in the Australian setting.

Led by Dr Carolyn Sue of the Department of Neurology, Royal North Shore Hospital, Sydney, a working group of health professionals with clinical expertise and experience in managing Australian patients with mitochondrial diseases has developed a series of recommendations based on international guidelines.

The recommendations cover the neurological manifestations of mitochondrial diseases, including epilepsy, headaches, myopathy and neuropathy. There is an additional section how to manage stroke-like episodes and also specific recommendations for paediatric patients.

The standards also cover other manifestations of mitochondrial diseases as they relate to audiology, ophthalmology, cardiology, critical care, endocrinology, respiratory and gastroenterology.

The guidelines also provide recommendations on other considerations for people with mitochondrial diseases, such as nutrition, fatigue and exercise and care co-ordination

The authors says that  mitochondrial diseases are the most common group of inherited metabolic diseases and in many cases are relentlessly progressive, cause a high disease burden and lead to premature death. They note that mitochondrial diseases are difficult to diagnose and many affected individuals spend years undiagnosed or misdiagnosed and miss out on potentially life-altering treatments.

“Given the spectrum of syndromes and wide variety of symptoms, treatment guidelines are symptom-based,” the authors write in Internal Medicine Journal.

However, they say the international treatment guidelines are not always applicable in the Australian healthcare setting where the range of publicly available investigations, treatments and longterm follow-up differ from that available in the USA and other international centres.

For example, genetic diagnosis may guide more precise treatment in some types of MDs, but this may be delayed in Australia because access to government- funded genetic testing is limited

“We hope that adapting these original standards aids in the diagnosis and management of patients with mitochondrial diseases in Australia. Clinical judgement, however, should guide all decisions for individual patient care,” they advise.

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