Clinical aspects of motor neurone disease

Motor neurone disease (MND) is a disabling and ultimately fatal disease of the motor system, with unfortunately few effective treatments. With a relatively uniform annual incidence worldwide of approximately 2 per 100,000, there are about 5000 cases of MND in the UK at any one time. Considerable heterogeneity is observed in the clinical motor features of MND, with extra-motor manifestations now also recognized as part of the condition. In the absence of specific disease markers, diagnosis remains clinical, with appropriate investigations to exclude mimics. Patient management is challenging but can be optimized with regular specialist follow-up, open but sympathetic communication and a multidisciplinary team approach. Advances in the holistic care of patients living with MND have considerably improved the management of physical, social and psychological symptoms. Although the disease remains incurable, a survival benefit has been observed with some therapies, particularly non-invasive ventilation and riluzole, now licensed for MND and recommended by NICE guidelines. Recent identification of genetic causes of MND adds to the expanding knowledge regarding aetiology and pathogenesis. However, the challenge to elucidate underlying causes of MND and establish effective disease-modifying therapies continues through active research. We provide a comprehensive review of MND, focusing on clinical features, diagnosis and management.