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 …