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.