Motor neurone disease: assessment and management

Context

Motor neurone disease (MND) is a neurodegenerative condition that affects the brain and spinal cord. MND is characterised by the degeneration of primarily motor neurones, leading to muscle weakness.

The presentation of the disease varies and can be as muscle weakness, wasting, cramps and stiffness of arms and/or legs; problems with speech and/or swallowing or, more rarely, with breathing problems. As the disease progresses, the pattern of symptoms and signs becomes similar, with increasing muscle weakness in the person's arms and legs, problems swallowing and communicating and weakness of the muscles used for breathing, which ultimately leads to death. Most people die within 2 to 3 years of developing symptoms, but 25% are alive at 5 years and 5% to 10% at 10 years. The most common type of MND is amyotrophic lateral sclerosis (ALS). There are rarer forms of MND such as progressive muscular atrophy or primary lateral sclerosis, which may have a slower rate of progression.

Every person with MND has an individual progression of the disease. About 10% to 15% of people with MND will show signs of frontotemporal dementia, which causes cognitive dysfunction and issues in decision‑making. A further 35% of people with MND show signs of mild cognitive change, which may affect their ability to make decisions and plan ahead.

MND is a disorder which can affect adults of any age. It is most common in people aged 55 to 79 years, and onset below the age of 40 years is uncommon. There are approximately 4,000 people living with MND in England and Wales at any one time. The cause of MND is unknown. About 5% to 10% of people with MND have a family history of the disease and several abnormal genes have been identified.

As there is no cure for MND, care focuses on maintaining functional ability and enabling people with MND and their family members to live as full a life as possible. Early diagnosis, without delay after investigation, may be helpful, as it allows medication and the provision of aids, as well as communication about the disease and advance care planning to be undertaken appropriately.

Care of people with MND varies across England and Wales, with MND care centres and networks providing coordinated multidisciplinary care. However, some people with MND are left isolated and their care is less than ideal. This guideline aims to consider the clinical and cost‑effectiveness evidence for the care of people with MND from the time of diagnosis, including communication of the diagnosis, monitoring of disease progression, management of symptoms (in particular muscle weakness, excess secretions, breathing and nutrition problems), ongoing support and services available, mobility, emotional and psychological changes, and the preparation for end of life care. Particular emphasis is placed on the importance of a multidisciplinary team approach to the care and management of people with MND.