Motor neurone disease

2020 ◽  
Vol 13 (12) ◽  
pp. 702-711
Author(s):  
Lisa Knight

Motor neurone disease describes a group of rare, fatal, neurodegenerative disorders. They are devastating conditions that cause the loss of upper and/or lower motor neurones, leading to a variety of progressive neurological symptoms that can develop over months to years. Due to the rarity of these conditions and the differing and often insidious symptoms there is typically a prolonged delay between presentation and diagnosis of between 15 and 18 months on average. There is often a short prognosis of 3 years, though this can vary significantly depending on the type of syndrome diagnosed. Primary care clinicians play a key role in both facilitating early diagnosis and subsequent management and co-ordination of care in the community.

2019 ◽  
Vol 19 (5) ◽  
pp. 424-426 ◽  
Author(s):  
Wladimir B V R Pinto ◽  
Igor Braga Farias ◽  
Bruno de Mattos Lombardi Badia ◽  
Luiz Henrique Libardi Silva ◽  
Mario Teruo Yanagiura ◽  
...  

Atypical motor neurone disease (MND) represents a challenging and expanding group of neurodegenerative disorders involving the upper or lower motor neurones, and rarely both. Neuro-ophthalmological disturbances such as gaze-evoked downbeat nystagmus are extremely rare in the context of typical and atypical MND. Finger extension weakness and downbeat nystagmus motor neurone disease (FEWDON-MND) syndrome has been recently recognised as a distinct syndromic phenotype of MND, with a characteristic clinical picture. We describe a 63-year-old woman with long-standing lower motor neurone involvement of the upper limbs, who on examination had gaze-evoked downbeat nystagmus. After extensive negative investigation for secondary causes of MND and downbeat nystagmus, we diagnosed FEWDON-MND syndrome.


1997 ◽  
Vol 166 (2) ◽  
pp. 109-109
Author(s):  
Amolak S Bansal ◽  
Jacqueline A Bansal

2018 ◽  
Vol 68 (suppl 1) ◽  
pp. bjgp18X697277
Author(s):  
James Durrand ◽  
F McHardy ◽  
E Land ◽  
Z Llewellyn ◽  
C Norman ◽  
...  

BackgroundPrehabilitation prior to major surgery mandates cross-sector working. Utilising the preoperative window from referral requires clinician engagement. Awareness of perioperative risk factors is crucial. A national survey uncovered gaps in knowledge and understanding.AimCreate an open-access, online educational resource for primary care clinicians.MethodOur multidisciplinary team developed a focused CPD resource targeting lifestyle factors and chronic health conditions influencing perioperative risk (www.prepwell.co.uk).ResultsPREP highlights seven risk factors influencing perioperative risk: Smoking, alcohol, inactivity, anaemia, cognitive impairment, frailty and low BMI. A case study frames each factor alongside perioperative impact and prehabilitation strategies.ConclusionPREP is the first educational resource of its type. Early evaluation through local clinicians, the RCGP and RCOA has resulted in very positive feedback. We are working with Royal College representatives to gain formal endorsement and facilitate wider scale rollout, a major step towards raised clinician awareness and enhanced collaboration for improved perioperative outcomes.


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