Matthew C Kiernan
Motor neurone disease is a neurodegenerative disease that leads to progressive disability – and eventually death – within 2–3 years.
This article describes the role of the general practitioner in caring for patients with motor neurone disease.
The diagnosis of motor neurone disease relies on the presence of upper and lower motor neurone features. There is currently no pathognomic test for motor neurone disease and it largely remains a diagnosis of exclusion following an accurate clinical history, combined with basic screening blood investigations and structural imaging of the brain and spinal cord. Neuro-physiological studies may be useful as an ancillary diagnostic tool. Riluzole, an anti-glutamate agent, is the only medication shown to have a survival benefit in motor neurone disease and results in a slowing of disease progression by an estimated 3–6 months. Noninvasive ventilation may relieve symptoms related to respiratory insufficiency and prolong survival by up to 12 months. A multidisciplinary approach to management has been shown to improve the quality of life for patients as well as survival. The GP is often the first point-ofcontact when medical issues arise regarding management of disease related symptoms including sialorrhoea, dyspnoea, constipation and pain, through to percutaneous gastrostomy feeding tubes and maintenance of noninvasive ventilation. It is important to establish the patient’s wishes for future care while they are still able to communicate easily.
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