This information is for health professionals and service providers.
The diagnosis of motor neurone disease (MND) is often clinically difficult, and sometimes it is necessary to review a person and observe symptom progression for some time before the diagnosis becomes reasonably certain. Rapid and accurate diagnosis is crucial in ensuring the needs of people living with MND are met from the earliest possible stage.
If MND is suspected is it important to refer the person to a neurologist expert in diagnosing motor neurone disease. A referral to a neurologist at one of the specialist MND Clinics is also advisable to confirm a diagnosis of MND.
MND is a rare condition and most GPs will only see one or two people with it in their careers, so they are likely to think first of other conditions or causes for the symptoms.
MND Australia has amended, with permission, the MND Association of England, Wales and Northern Ireland 'Red Flag diagnosis tool' for Australian GPs and health professionals, Painless, progressive weakness – Could this be motor neurone disease? The tool lists common MND signs and symptoms, prompts GPs to query MND and highlights the importance of initiating early referral to a neurologist.
Fasciculation is the most common symptom GPs associate with MND, and patients presenting with other bulbar, limb or respiratory features may be referred to non-MND specialist services, delaying correct diagnosis. A newly-developed checklist which includes a comprehensive list of potential signs has potential to be a useful tool for GPs, although levels of awareness and usage need to be enhanced by incorporating it into existing systems. There is a need for further research into how decision-support tools should be designed and provided, in order to best assist GPs with referral decisions. There is also a need for further work at the level of secondary care, in order that referrals made are re-directed appropriately (Baxter and McDermott 2017).
Patients with symptoms suggestive of ALS should be assessed as soon as possible by an experienced neurologist. Early diagnosis should be pursued, and investigations, including neurophysiology, performed with high priority. The patient should be informed of the diagnosis by a consultant with a good knowledge of the disease and the patient (Andersen et al 2012).
There is no single diagnostic test for MND. Diagnosis is based on features in the clinical history and examination, usually accompanied by electrophysiological tests including electromyography (EMG) and nerve conduction studies.
Other tests may include:
The purpose of these tests is to exclude the presence of other neurological conditions. In the early stages of MND, symptoms can be similar to those seen in other conditions, so people may spend months seeing various specialists before a diagnosis is reached. With the increasing number of clinical trials and potential for therapies to become available to slow down or even stop progression, at least in some forms of MND, early and expert diagnosis is imperative.
In 2019 MND Australia participated in a consensus meeting with experts from across the world to help improve early diagnosis of ALS/MND. Supported by the International Federation of Neurophysiologists, World Federation of Neurologists, the ALS Association and the MND Association of England, Wales and Northern Ireland and organised by Professors Matthew Kiernan, Ryuji Kaji and David Burke this meeting involved leading neurologists and neurophysiologists from 11 countries as well as MND Australia and patient and carer representatives from Australia, Sean and Pauline Dorney. Held over three days on the Gold Coast Queensland, the aim of the meeting was to improve the ability to diagnose ALS/MND earlier and when clinical symptoms are minimal. Earlier diagnosis gives current and future therapies the best chance of success in stopping, or even reversing, the disease process in the very early stages. A consensus paper has subsequently been published.
The broad aim of the consensus meeting was to improve the process of diagnosis of ALS in the early stages of the disease, when clinical symptoms are minimal, thereby giving therapies the best chance of success. Previous ALS criteria, dating back to the original El Escorial and later Airlie House and Awaji criteria, used degrees of diagnostic certainty from possible to definite ALS. While such an approach makes sense, it also carries a degree of uncertainty for patients, their families, and clinicians.
From a practical level, patients with a label of possible ALS may be denied entry to clinical trials, even though such patients would likely benefit from instigation of trial therapies compared with those recruited later in their disease.
Accepting these broad concepts of disease, combined in an integrated fashion, a consensus was reached, whereby ALS was defined by the presence of:
- Progressive motor impairment, documented by history or repeated clinical assessment, preceded by normal motor function.
- Upper and lower motor neurone dysfunction in at least one body region (in the same body region if only one body region was involved), or lower motor neuron dysfunction in at least two body regions.
- Investigation findings that excluded alternative disease processes (Kiernan for the ALS Consensus Committee 2020).
The following statements summarize our current understanding of ALS:
- ALS is a progressive disorder of the motor system
- Clinically focal onset is most frequent, but a generalized symptom onset is also recognized.
- The motor disorder in ALS reflects both lower and upper motor neuron dysfunction, but it is recognized that upper motor neuron signs are not always clinically evident.
- Evidence of lower motor neuron dysfunction can be derived from clinical examination and/or from EMG.
- For the purpose of diagnosis, evidence of upper motor neuron dysfunction is currently derived from clinical examination.
- Supportive evidence of lower motor neuron dysfunction can be derived from ultrasound detection of fasciculations from multiple muscles (Tsugawa et al., 2018). Supportive evidence of upper motor neuron dysfunction can be derived from transcranial magnetic stimulation studies of the central motor nervous system, MRI, and neurofilament levels (Bowser et al., 2011). It should be stressed that current diagnosis does not require these studies.
- ALS may include cognitive, behavioral and/or psychiatric abnormalities although these are not essential for diagnosis (Shefner et al 2020).
Anxiety can increase as a result of the onset of worrying symptoms, the difficulty in identifying a cause, the protracted period of investigation and the need for the doctor to be sure before giving the diagnosis. If MND is suspected it is important to refer the person to a neurologist expert in diagnosing motor neurone disease without delay.
Information and support for the person and their family during the diagnostic period is also important. MND Associations can be contacted to help support people during this stressful and worrying time.
Research has shown that how the diagnosis is given and communicated impacts the person receiving the diagnosis and their carer significantly. It is therefore very important for clinicians to prepare in advance how, when and where the diagnosis will be delivered and who should be present. Clinicians should also ensure adequate time is set aside to support discussion, provision of information and referral to sources of support.
take time to plan how the diagnosis will be communicated
choose a quiet, relaxed, private space away from external distractions
consider who will be present – partner, family members, other members of the health care team
consider timing to ensure that the person can access other services if desired, for example, breaking the news on a Friday afternoon can greatly exacerbate anxiety
Telling the truth:
Initial shock often limits the ability to absorb information. At diagnosis people need:
Communicating the diagnosis of MND should always include family carers. Information on support provided by MND Associations should always be available at diagnosis. Results also showed that more attention should be given to family carers as a vital member of the MND care triad (Aoun et al 2017).
Best practice guidelines for MND stress the need for support for patients and family carers from diagnosis so that the individual's spiritual and emotional needs may be addressed alongside medical and practical needs. People living with MND require sensitive communication of the diagnosis combined with appropriate information about MND and support services, ensuring the provision of emotional/psychological support, a follow-up appointment within two weeks of diagnosis and direct referral to the relevant MND association (Aoun et al 2016).
Imparting a diagnosis of ALS requires skill. If not performed appropriately, the effect can be devastating, leaving the patient with a sense of abandonment and destroying the patient-physician relationship...... Patient/caregivers are more satisfied if effective communication strategies are used, and more time is spent in discussing the diagnosis (Andersen et al 2012).
Communication of a diagnosis of MND is daunting for patients and neurologists. People with MND, their families and carers often suffer considerable psychological and emotional distress from diagnosis onwards.
The major challenges are coping with loss and living with change, however, much can be done to alleviate this distress, help people to adjust and make the most of their coping skills. When giving the diagnosis it is important to stress that the prognosis for people living with MND is quite variable and that some do a lot better than the average survival figures. It is also vital to stress that although there are no therapies yet available to stop or significantly slow progression there is much that can be done to manage the symptoms and support the person and their family throughout the disease trajectory.
Receiving a diagnosis of MND is a challenge and a source of dissatisfaction for patients and their families. The manner in which the diagnosis is given has implications for the way patients and families move from the news of their diagnosis to the actions required for support throughout the illness trajectory and bereavement response.
Nearly 70% of neurologists reported finding it “somewhat to very difficult” communicating the MND diagnosis, and 65% reported feeling moderate to high stress and anxiety at the delivery of diagnosis. Compared to international guidelines, areas for improvement include length of consultation, period of follow up and referral to MND associations. Two-thirds of neurologists were interested in further training to respond to patient's emotions and development of best practice guidelines. (Aoun et al 2016, Breaking the news of a diagnosis of motor neurone disease: A national survey of neurologists' perspectives).
In conclusion, this study, in its quantitative and qualitative components, has highlighted ‘what it takes to make it better’ for patients who were receiving the diagnosis, in terms of the neurologist showing more empathy, having longer consultation times and shorter follow-up periods, more referrals to MND associations, and the neurologist sharing more information…..
With over one-third of patients dissatisfied with their experience, there is room for improvement in the practice of neurologists. The following comment captures a number of areas needing improvement: ‘‘All neurologists need to be sensitive that the way they give the diagnosis will have ongoing impacts for life. ‘There is no going back’ applies not only to the words themselves but the way in which they are delivered. I appreciate honesty as long as it is sensitively delivered.’’ (Aoun et al 2016, Receiving the news of a diagnosis of motor neuron disease: What does it take to make it better?).
The National Institute for Health and Care Excellence (NICE) 2016 Guidelines - see recommendation: 1.1 Recognition and referral
Andersen et al 2012, EFNS guidelines on the Clinical Management of Amyotrophic Lateral Sclerosis (MALS) - revised report of an EFNS task force - Diagnosing ALS Recommendations:
Being a syndrome with low incidence and short survival, most recommendations are good clinical practice principles (GCPPs) based on the consensus of experts in the field of ALS (Andersen et al 2012).
Shoesmith et al 2021, Canadian best practice recommendations for the management of amyotrophic lateral sclerosis:
Communication of diagnosis recommendations:
The approach to communicating the diagnosis should be tailored to the patient’s individual needs (EC).
The diagnosis of ALS should be confirmed by a neurologist or physician with training and expertise in ALS (EC). Patients referred for confirmation of an initial diagnosis of ALS should be seen in an ALS specialty clinic within 4 weeks (EC). Timely clinical contact by the specialty ALS clinic after confirmation of diagnosis is recommended (EC).
Discussion about ALS treatments and ALS research should occur. Patients should be provided with written information about ALS resources (paper- or Internet-based) and encouraged to register with their local and national ALS society (EC).
Discussions on prognosis are important and should be tailored to the individual but need not be discussed at initial diagnosis unless specifically requested (EC).
The National Institute for Health and Care Excellence (NICE) 2016 guidelines - see recommendation: 1.2 Information and support at diagnosis
Andersen et al 2012, EFNS guidelines on the Clinical Management of Amyotrophic Lateral Sclerosis (MALS) - revised report of an EFNS task force - Breaking the news: communicating the diagnosis recommendations:
The diagnosis should be communicated by a consultant with a good knowledge of the patient (GCPP).
The physician should start the consultation by asking what the patient already knows or suspects (GCPP).
The diagnosis should be given in person, ensuring enough time for discussion (suggest at least 45-60 min). Provide printed materials about the disease, about support and advocacy organizations and informative websites. A copy letter summarising the discussion can be helpful for patients and carers (GCPP).
Assure patients that they will not be ‘abandoned’ by healthcare services and will be supported by a professional ALS care team (where available), with regular follow‐up visits to a neurologist. Make arrangements for a first follow‐up visit, ideally within 2-4 weeks (GCPP).
Avoid the following: withholding the diagnosis, providing insufficient information, imposing unwanted information, delivering information callously, taking away or not providing hope (GCPP).
Prognostic and end-of-life communication is a vital skill for health care professionals caring for patients with progressive life-limiting illnesses, and their families. The Australian 'Clinical practice guidelines for communicating prognosis and end-of-life issues with adults in the advanced stages of a life-limiting illness, and their caregivers' developed by Clayton et al in 2007 help to address these issues. The key recommendations of these guidelines are for health professionals to consider the recommendations conveyed by the acronym PREPARED:
Prepare for the discussion, where possible
Relate to the person
Elicit patient and caregiver preferences
Provide information, tailored to the individual needs of both patients and their families
Acknowledge emotions and concerns
(Foster) Realistic hope
Encourage questions and further discussions
MND Aware e-training program MND Hub – online training course for health professionals and service providers developed by MND NSW - Lecture 3: Getting the diagnosis.
Progress in understanding and treating MND in the last few decades, 2018, Professor Al-Chalabi
The biomarker challenge, 2018, Professor Martin Turner
Margie Zoing and Matthew Kiernan, 2011, Motor neurone disease, Caring for the patient in general practice
MND Australia factsheet for people living with MND:
MND Association of England, Wales and Northern Ireland, Information in other languages and format
healthtalk.org - stories collected by academic researchers who interview people in their own homes, using their own words: