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- W3045055276 abstract "Motor neurone disease (MND), or amyotrophic lateral sclerosis (ALS), is a progressive, fatal neurodegenerative disease affecting upper and lower motor neurones. It eventually causes widespread weakness and wasting, spasticity, dysarthria, dysphonia, dysphagia and respiratory failure. The diagnosis is clinical, and it is important for management to establish this early. It presents with upper and lower motor neurone signs affecting the bulbar, cervicothoracic and lumbosacral regions (ALS), only lower motor neurone signs affecting one or more limbs (progressive muscular atrophy), purely bulbar region symptoms and signs (bulbar onset), or only upper motor neurone signs in the (usually lower) limbs (primary lateral sclerosis). Imaging, electrophysiological and other tests help the differential diagnosis of mimics, including potentially treatable conditions. The underlying cause remains uncertain. Only 5–10% of patients have a demonstrable genetic cause. There is no cure, and the greatest advances have been in improving multidisciplinary supportive management. This includes gastrostomy and nutritional support, respiratory monitoring and management, including provision of non-invasive ventilation, and communication aids. Drugs for symptomatic relief of excessive salivation and spasticity can help. Riluzole and edaravone (restricted acceptance) are used although their disease-modifying effects are said to be mild and are controversial. Genetic therapies are currently being trialled for C9orf72-and SOD1-related MND/ALS." @default.
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- W3045055276 date "2020-09-01" @default.
- W3045055276 modified "2023-09-27" @default.
- W3045055276 title "Clinical aspects of motor neurone disease" @default.
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- W3045055276 doi "https://doi.org/10.1016/j.mpmed.2020.06.006" @default.
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