Abstract
Amyotrophic Lateral Sclerosis (is a progressive motor system degeneration. Extra motor involvement also occurs, primarily in the form of cognitive and behavioural impairment. Up to 13 % of incident patients with ALS have a frontotemporal dementia. The pathophysiology of ALS is not well understood. 10–15 % of cases have a family history of ALS/frontotemporal dementia, and over 20 mendelian inherited “at risk” genes have been identified to date. Diagnosis is clinical, and investigations are aimed at excluding other treatable conditions. With the exception of Riluzole which has a modest effect on survival, no successful disease modifying agents have been developed to date. Optimal management of ALS requires a multidisciplinary team including early access to specialist palliative care services. Most ALS patients develop respiratory failure, and early intervention with non-invasive ventilation and aggressive secretion management can improve survival and enhance quality of life. ALS is associated with high levels of carer burden, particularly in the context of cognitive and behavioural impairment. Patients with ALS should be encouraged to consider an advanced directive regarding their preferred options at the end of their life.
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Hardiman, O., Kiernan, M.C., van den Berg, L.H. (2016). Amyotrophic Lateral Sclerosis. In: Hardiman, O., Doherty, C., Elamin, M., Bede, P. (eds) Neurodegenerative Disorders. Springer, Cham. https://doi.org/10.1007/978-3-319-23309-3_8
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