Motor neurone disease: progress and challenges

Dharmadasa, Thanuja; Henderson, Robert D; Talman, Paul S; Macdonell, Richard AL; Mathers, Susan; Schultz, David W; Needham, Merrillee; Zoing, Margaret; Vucic, Steve; Kiernan, Matthew C

doi:10.5694/mja16.01063

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Nervous system diseases

Summary

Major progress has been made over the past decade in the understanding of motor neurone disease (MND), changing the landscape of this complex disease.
Through identifying positive prognostic factors, new evidence-based standards of care have been established that improve patient survival, reduce burden of disease for patients and their carers, and enhance quality of life. These factors include early management of respiratory dysfunction with non-invasive ventilation, maintenance of weight and nutritional status, as well as instigation of a multidisciplinary team including neurologists, general practitioners and allied health professionals.
Advances in technology have enhanced our understanding of the genetic architecture of MND considerably, with implications for patients, their families and clinicians. Recognition of extra-motor involvement, particularly cognitive dysfunction, has identified a spectrum of disease from MND through to frontotemporal dementia.
Although riluzole remains the only disease-modifying medication available in clinical practice in Australia, several new therapies are undergoing clinical trials nationally and globally, representing a shift in treatment paradigms. Successful translation of this clinical research through growth in community funding, awareness and national MND research organisations has laid the foundation for closing the research–practice gap on this debilitating disease.
In this review, we highlight these recent developments, which have transformed treatment, augmented novel therapeutic platforms, and established a nexus between research and the MND community. This era of change is of significant relevance to both specialists and general practitioners who remain integral to the care of patients with MND.

1 Brain and Mind Centre, University of Sydney, Sydney, NSW
2 Royal Brisbane and Women's Hospital, Brisbane, QLD
3 Geelong Hospital, Geelong, VIC
4 University of Melbourne, Melbourne, VIC
5 Calvary Health Care Bethlehem, Melbourne, VIC
6 Flinders Medical Centre, Adelaide, SA
7 Western Australian Neuromuscular Research Institute, Perth, WA
8 Westmead Hospital, Sydney, NSW

Correspondence: thanuja.dharmadasa@sydney.edu.au

Acknowledgements:

Thanuja Dharmadasa is a recipient of an Australian Postgraduate Award (University of Sydney), a Rotary Club of Cronulla Funding Partner Scholarship, a MNDRIA PhD Top-up Grant and a Yulgilbar Foundation Alzheimer’s Research Program PhD Top-up Award. Matthew Kiernan is the Editor-in-Chief of the Journal of Neurology, Neurosurgery and Psychiatry. This work was supported by funding to ForeFront, a collaborative research group dedicated to the study of FTD and MND, from a National Health and Medical Research Council of Australia program grant (1037746).

Competing interests:

No relevant disclosures.

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Motor neurone disease: progress and challenges

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