Motor neurone diseaseBMJ 2014; 349 doi: https://doi.org/10.1136/bmj.g4052 (Published 09 July 2014) Cite this as: BMJ 2014;349:g4052
- Saiji Nageshwaran, academic foundation doctor1,
- Lucy Medina Davies, general practitioner and clinical support fellow for rare diseases2,
- Imran Rafi, senior lecturer and chair of clinical innovation and research12,
- Aleksandar Radunović, consultant neurologist and director3
- 1Department of Population Health Sciences and Education, St George’s, University of London, London SW17 0RE, UK
- 2Clinical Innovation and Research Centre, Royal College of General Practitioners, London, UK
- 3Barts Motor Neurone Disease Centre, Royal London Hospital, London, UK
- Correspondence to: S Nageshwaran
- Accepted 21 May 2014
A 59 year old man initially presented with weakness in his right leg and occasional trips. He had a longstanding history of mild low back pain and had a magnetic resonance image performed under the orthopaedic team that showed some cervical spondylolisthesis sparing the spinal cord. Four months after this, he went back to the general practitioner with progressive difficulty buttoning his shirt.
What is motor neurone disease?
Motor neurone disease is a devastating, incurable neurodegenerative disease of the motor neurones that primarily affects people in their 60s or 70s.1 Of the four subtypes of motor neurone disease, the most common is amyotrophic lateral sclerosis.2 The subtypes vary clinically because they predominately affect different areas and have varying rates of progression.
How common is it?
The incidence of amyotrophic lateral sclerosis is estimated to be 2.6 per 100 000 person years across Europe2
A GP working full time for 30 years might expect to see one or two cases in his or her career1 2
Diagnostic delays of 12-19 months from presentation have been reported. Two retrospective studies involving 130 patients showed that 27-61% of patients eventually diagnosed with motor neurone disease had been misdiagnosed, contributing to about 9-13 months of this delay3
Why is motor neurone disease missed?
Although motor neurone disease is a relatively well known rare disease, most GPs will diagnose only one or two cases in their career. There is a lack of awareness of the symptoms at presentation, when symptoms are often subtle.3 The disease affects …