Clinical Review

Diagnosis and management of motor neurone disease

BMJ 2008; 336 doi: http://dx.doi.org/10.1136/bmj.39493.511759.BE (Published 20 March 2008) Cite this as: BMJ 2008;336:658
  1. Christopher J McDermott, clinical senior lecturer and honorary consultant neurologist,
  2. Pamela J Shaw, professor
  1. 1Sheffield Care and Research Centre for Motor Neurone Disorders/Academic Neurology Unit, Section of Neuroscience, University of Sheffield, Sheffield S10 2RX
  1. Correspondence to: C J McDermottChristopher.Mcdermott{at}sth.nhs.uk

    Motor neurone disease is a devastating illness which leads to progressive paralysis and eventual death. We will discuss the presentation of motor neurone disease in primary care and update non-specialists on progress with regards to life prolonging interventions, better control of disease symptoms, and an increased understanding of disease mechanisms. Motor neurone disease is rare but patients often are aware of it, so this review should help non-specialists reassure patients in whom it is unlikely to be the diagnosis.

    Sources and selection criteria

    The review is based on our experience in running the Sheffield Care and Research Centre for Motor Neurone Disorders and an up to date review of the current literature relating to motor neurone disease. Searches used PubMed and the Cochrane Library databases.

    How common is motor neurone disease?

    Motor neurone disease is relatively uncommon with an annual incidence of 2 in 100 000 and prevalence of 5-7 per 100 000.1 2 3 General practitioners can expect to see one or two cases during their career.

    How does motor neurone disease present?

    Motor neurone disease is largely a sporadic disease of middle and elderly life presenting in the sixth and seventh decades, although the disease can present in much younger patients. A younger presentation is more often seen in familial motor neurone disease, which accounts for approximately 5% of cases. The classic form of the disease is also referred to as amyotrophic lateral sclerosis and presents with a mixture of upper and lower motor neurone features, such as wasted fasciculating biceps with a brisk or easily obtained biceps deep tendon reflex. The rarer variants of the disease can have a pure upper motor neurone presentation, primary lateral sclerosis, or a pure lower motor neurone presentation, progressive muscular atrophy.

    Classic motor neurone disease tends to be focal in onset, with a particular group of muscles affected first. Of the three recognised patterns—limb, bulbar, and respiratory onset—limb …

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