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Foreword
ALS/MND is repeatedly refered to as a "fatal" neurodegenerative illness. Whilst it is true that the majority of people diagnosed with this illness may die due to complications, opportunistic infections or simply inadequate or poorly informed nursing or treatment practices, ALS/MND as such does not kill.

Long term survivors of ALS/MND, even when significantly disabled are proof that the disease itself is not the cause of death. Until fairly recently, death certificates rarely cited ALS/MND as cause of death; respiratory failure or pneumonia were usually given as cause of death.

Older medical textbooks frequently use the term "fatal illness" to describe conditions for which there is no cure. There is a growing trend in medicine to avoid the use of the words "fatal illness" to describe illnesses that statistically often lead to death.

Medical sciences are now progressing so rapidly that the "fatal illness" of ten years ago may be treatable if practitioners are willing to keep up to date with medical advances and consider the application of multi-part treatments or even complementary/integrative medical practices. These may not actually "cure" ALS/MND but can improve quality of life and in some cases even slow the progress of the illness and should at least be considered where applicable.

A prominent neurologist admitted that, when at medical school, he was advised "if you want to become a diagnostician, choose neurology - but if you want to actually cure people you should perhaps consider another branch of medicine".

As most PALS are diagnosed by specialist neurologists, who by their own admission can only diagnose then monitor the progress of ALS/MND, it is important that after the diagnosis a patient should immediately seek a doctor or doctors to treat their symptoms.

It is essential, therefore, to find a family doctor willing to work with the patient. Easier said than done. Most will wait for news from the neurologist on potential treatments for neurodegeneration; neurologists in turn wait for drug companies and researchers to produce a cure and the drug companies and researchers must invest or obtain vast quantities of money before significant progress can be made.

A good family doctor will respond to each health issue as it arises or is likely to arise. They will not dwell on "false hope" as they will understand that a positive attitude and effort by the patient to become actively involved in the healing/treatment process can only be of benefit.

* How does motor neurone disease present in practice?
* What is the GP's role in the care of MND patients?
* What specific interventions are likely to help?

Motor Neurone Disease (MND), also called amyotrophic lateral sclerosis (ALS), is a neurodegenerative disease characterised by degeneration of spinal cord anterior horn motor neurones, the cerebral motor pathways, and brainstem motor nuclei. The resulting muscle wasting leads to progressive impairment of speech, swallowing, limb movements and ultimately respiration.

Average survival is two to five years, although some patients survive for ten years or longer. It is predominantly a condition of middle age affecting both sexes, though men have the condition more often than women.(1)

In nearly all cases there is preservation of intellect, sphincter function and sensation, including the special senses.

Only five per cent of ALS/MND is associated with a family history - about 20 per cent of these cases have mutations of the superoxide dismutase (SOD1) gene.

Although recent research has provided considerable detail concerning the molecular biology of neural cell death,(2) no definite aetiology for sporadic MND has been proven to date, and there is currently no cure despite numerous trials. (3)

How does ALS/MND present? Presentation is commonly in an arm or leg. The earliest symptoms may be non-specific such as muscle cramps or persistent muscle twitching (fasciculations) or insidious 'clumsiness' and/or falls and so go unreported. About a third of patients present with 'bulbar' involvement, that is, symptoms related to the muscles of speech and swallowing.

The diagnosis of ALS/MND is clinical and depends on the finding of 'lower motor neurone' signs (fasciculation, wasting and weakness), in combination with a variable degree of 'upper motor neurone' signs (increased tone and brisk reflexes). Routine blood tests are usually entirely normal, although the creatinine kinase (CK) level may be mildly elevated, reflecting muscle wasting.

The implications of making a diagnosis of ALS/MND are profound, hence the need to exclude all potentially treatable causes for the symptoms. In most situations this will require prompt referral to a neurologist.

Suspected ALS/MND should be regarded as an indication for urgent referral to minimise diagnostic delay and anxiety and to implement appropriate support. Generally, all such patients will undergo detailed neurophysiological muscle/nerve tests, and MRI of the head and spine to exclude a central cause.

Telling the diagnosis. Many neurologists regard giving a diagnosis of ALS/MND to a patient as one of their hardest tasks.The parallels with oncology are very close. There is an inevitable balance to be struck between avoiding delay and waiting until the diagnosis is absolutely certain, which occasionally only time will tell, and once the term is mentioned it is very hard to take back.

Patients need to be informed as soon as possible so that they can make arrangements and maximise quality of life before significant progression of their symptoms. Commonsense rules apply, such as having a private, interruption-free area to give the diagnosis, and suggesting that a relative and a senior nurse are present.

This needs to include honest answers to questions about prognosis, while bearing in mind the variation in progression from person to person. Details of local support should be provided as soon as possible (see below).

What are the specific problems in ALS/MND? A 'head to toe' approach to screening is essential so that nothing is missed.

Patients and carers may suffer profound depression after the diagnosis of ALS/MND. Even in the absence of this, emotional lability ('crying one minute, laughing the next') is a frequent symptom seen in ALS/MND and it is important to reassure patients that it is not a sign of early dementia, which affects less than five per cent of patients.

Patients with bulbar involvement may complain of excessive salivationor drooling (sialorrhoea) because of impaired swallowing. Impairment of swallowing can lead to distressing choking episodes, although patients with ALS/MND very rarely choke to death. Nasal regurgitation of liquids is rare and due to poor palatal movement. Fear of eating leads to dehydration and malnutrition, and can cause problems with oral hygiene.

Speech may range from mildly dysarthric to absent.

Neck support can be troublesome as muscle weakness progresses. This impairs communication and airway patency, compounding any swallowing difficulties. In the upper limbs, progressive loss of power leads to increasing dependence on others for feeding, dressing and other activities of daily living such as writing.

If mobility is impaired due to leg involvement, progression to the arms may preclude the use of frame supports or a non-motorised wheelchair.

In the chest intercostal muscle and/or diaphragmatic weakness may lead to hypoventilation. This can manifest as attacks of breathlessness, often worse when supine, or with symptoms of chronic hypoventilation such as morning headaches or excessive daytime somnolence.

The combination of aspiration and reduced coughing ability leads to persistent chest infections.

Truncal muscle involvement can cause difficulty with posture and support.

There is specific sparing of involvement of the spinal neurones responsible for sphincter control. However, reduced mobility and dehydration in the later stages of the disease can result in secondary urinary urgency and constipation respectively. This may be exacerbated by weakness of abdominal musculature.

In the lower limbs, wasting and weakness impairs mobility and can lead to repeated falls with injury. Bed transfers may become impossible without hoisting, and this is made worse if where there is also upper limb involvement.

Poor mobility coupled with loss of muscle tone can lead to intractable joint pains, and in the longer term patients are at risk of pressure sores and deep venous thrombosis.

* The role of the multi-disciplinary team. The optimal care of the MND patient depends crucially on a well co-ordinated, multi-disciplinary team approach. (4)

A full occupational therapy assessment often reveals far more potential obstacles that need to be overcome than both the patient and carer had at first considered.

Adaptations may need to be made to housing - plans must be realistic, allowing for progressive disability. Aids for facilitating household tasks - for example, mobile arm supports, advice on driving (hand-control, wheelchair-accessible vehicles) and other aspects of community access - are also available.

Physiotherapists have expertise in aspects relating to mobility and posture. Patients with foot drop may benefit from orthoses to prevent tripping. Hand exercises are useful to help prevent contractures and maximise function. A variety of neck supports are available and patients often need to try several. Patients can be taught strategies for turning in bed to prevent joint pains from prolonged immobility.

Early referral to speech and language therapy services at the first suggestion of bulbar problems is vital. Patients can be taught strategies to facilitate the passage of fluid/food without choking by maximising residual function, and the risk of aspiration can be assessed relatively easily using techniques such as video fluoroscopy.

Specific advice on communication equipment, such as a Lightwriter or a more sophisticated PC-based system, is also available.

It is essential to maximise the ability to communicate by whatever means to avoid the agony of being 'locked in' as bodily weakness progresses.

Prompt referral to a dietician is advised if there is concern over inadequate calorific intake. An assessment of needs can be made and 'build-up' drinks arranged.

Advice regarding the timing of gastrostomy (see below) can be made in partnership.

Patients benefit greatly from referral to local palliative care services, usually through a hospice. There is now a greater recognition of the role of hospice care in MND, although many units are already over-stretched.

The subject of referral needs to be approached sensitively. Local nursing support, in the form of home care teams, can be of great comfort to patients and carers even if they do not wish to attend the hospice as a source of respite. In the later stages, expertise in the management of respiratory failure is invaluable and can prevent inappropriate and distressing emergency admissions.(6)

The role of the GP. Most GPs will see one or two patients with MND during a professional lifetime, and it is entirely understandable that the index of suspicion is low when a patient presents with apparently non-specific symptoms. However, lengthy waits for neurology appointments and subsequent tests lead to anxiety and dissatisfaction, and so urgent referral is helpful where MND is suspected.

In the face of rapidly progressive disease with no cure available, it is easy for the patient's GP and hospital physicians to develop a sense of helplessness. However, the GP's role is pivotal, not just in co-ordinating services but also in the prompt management of symptoms, which can greatly improve quality of life.

Specific interventions. Riluzole, a glutamate antagonist, has been licensed for the treatment of MND. It is not a cure, but has a modest effect on survival in large placebo-controlled trials.(5) Despite this, it remains the only life-prolonging drug treatment for MND, and many patients feel strongly that they should have the chance to take something, despite only a small effect, rather than nothing, and it has quite recently been endorsed by the National Institute of Clinical Excellence

Treatment requires monitoring of liver enzymes at baseline and monthly for the first three months; three-monthly tests are sufficient thereafter. Any significant rise in transaminases requires withdrawal of the drug, though such cases are rare. Common side-effects include fatigue and nausea.

Sialorrhoea may respond to amitriptyline, which is also a useful drug for the treatment of emotional lability. A low initial dose, increasing as tolerated, is recommended. An hyosine (scopoderm) patch, atropine eye drops on the tongue or glycopyrrolate via a gastrostomy tube are alternative treatments. X-ray irradiation of the salivary glands may be of benefit and trials of botulinum toxin injection into salivary glands are underway.

Spasticity requiring treatment to prevent contractures or improve mobility usually responds to baclofen or tizanidine.

Joint pains related to immobility can be difficult to treat. A review of posture including wheelchair cushion replacement may help, but often it becomes necessary to use analgesia. Simple analgesics are preferred, or a long-acting non-steroidal preparation if tolerated. The use of opiate-based preparations may become inevitable.

Many patients see the insertion of a gastrostomy feeding tube as an admission of failure and progression towards death.

Although some refuse the procedure outright, it is important to discuss it early so that an informed decision can be made before a crisis is reached - if the discussion is left until oral feeding has become impossible, then malnutrition and respiratory weakness may render the procedure too risky.

The radiologically inserted gastrostomy (RIG) requires less sedation and may be performed at a later stage of the disease.

Inevitably, weakness spreads to the muscles of respiration. Severe breathlessness is extremely distressing, but may respond to low-dose lorazepam sub-lingually.

Few patients elect to have permanent assisted ventilation via tracheostomy. However, use of non-invasive positive pressure ventilation (NIPPV) results in marked symptomatic relief and improved quality of life (7,8).

Many patients elect to take a variety of over-the-counter anti-oxidant preparations such as vitamin E, although firm evidence of benefit is lacking. The same applies to the muscle precursor creatine on the basis of animal studies.

Support and information. The Motor Neurone Disease Association in England, Wales and Northern Ireland, and for Scotland provides support to patients and their carers on all aspects of MND, along with information packs for GPs see also the Useful Links page on this website.

Regional care advisers appointed around the UK are available to advise and educate professionals and patients. They operate an equipment loan scheme and can provide limited financial assistance.

The care of the MND patient undoubtedly represents a major challenge for all, but with adequate planning it is possible to maximise quality of life for sufferers.

Some of the information above was adapted from an article in The Practitioner by Martin Turner MA, MBBS, MRCP, Research Registrar in Neurology, Academic Neurosciences Centre, Kings College London & The Institute of Psychiatry, London

References
1 Haverkamp LJ et al. Natural history of amyotrophic lateral sclerosis in a database population. Validation of a scoring system and a model for survival prediction. Brain 1995;118(3):707-719
2 Al-Chalabi A, Leigh PN. Recent advances in amyotrophic lateral sclerosis. Curr Opin Neurol 2000;13(4):397-405
3 Turner MR, Parton MJ, Leigh PN. Clinical trials in ALS: An overview.Semin Neurol 2001. In press
4 Miller RG et al. Practice parameter: the care of the patient with amyotrophic lateral sclerosis (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology: ALS Practice Parameters Task Force. Neurology 1999;52(7):1311-1323
5 Bensimon G et al. A controlled trial of riluzole in amyotrophic lateral sclerosis. ALS/Riluzole Study Group. N Engl J Med 1994;330(9):585-591
6 Leigh PN, Williams VC, Abrahams S. Motor neurone disease. Eur J Pall Care 2001;8(1):10-13
7 Aboussouan LS et al. Effect of non-invasive positive-pressure ventilation on survival in amyotrophic lateral sclerosis. Ann Intern Med 1997;127(6):450-453
8 Lyall RA et al. A prospective study of quality of life in ALS patients treated with non-invasive ventilation. Neurology 2001. In press

Clinical focus

* Presentation is commonly in an arm or leg. The earliest symptoms may be non-specific (muscle cramps or persistent muscle twitching (fasciculation)), or insidious ('clumsiness' and/or falls), and so go unreported. About a third of patients present with 'bulbar' involvement, that is, symptoms related to the muscles of speech and/or swallowing.

* The diagnosis of ALS/MND is clinical and depends on the finding of 'lower motor neurone' signs (fasciculation, wasting and weakness), in combination with a variable degree of 'upper motor neurone' signs (increased tone and brisk reflexes).

* Suspected ALS/MND should be regarded as an indication for urgent referral. Generally, all such patients will undergo detailed neurophysiological muscle/nerve tests, and MRI of the head and spine to exclude a central cause.

* Early referral to speech and language therapy services at the first suggestion of bulbar problems is vital. Patients can be taught strategies to facilitate the passage of fluid/food without choking by maximising residual function.

* Riluzole, a glutamate antagonist, has been licensed for the treatment of ALS/MND (in most countries). It is not a cure, but has a modest effect on survival in large placebo-controlled trials. Despite this, it remains the only life-prolonging drug treatment for ALS/MND, and many patients feel strongly that they should have the chance to take something, despite only a small effect, rather than nothing.

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Very few patients are appropriately counseled about all therapeutic options.

Neuromuscular diseases, such as amyotrophic lateral sclerosis, are considered to be terminal illnesses. As with many neuromuscular and neurologic diseases, morbidity and mortality are caused by dysfunction of inspiratory, expiratory, and bulbar musculature but inspiratory and expiratory musculature can be supported by simple, noninvasive means that are rarely considered when PALS are counseled about advance directives.

Failure to use noninvasive aids almost invariably results in respiratory failure, intubation, and tracheostomy or death. When noninvasive aids are available, invasive measures referred to in advance directives (eg, intubation) are often needed only temporarily. Yet, ill-informed patients are often advised to refuse intubation and die or to be intubated and decide whether to undergo tracheostomy for long-term ventilatory support.

Despite severe disability, ventilator users with neuromuscular disease report normal life satisfaction. Health care professionals tend to ignore the patient's life satisfaction and consider quality of life measures not designed for the disabled to justify withholding life-saving interventions. Advance directives are inappropriate for patients with severe muscle weakness and few patients are appropriately counseled about all therapeutic options.

Threats to "informed" advance directives for the severely physically challenged? Source: Arch Phys Med Rehabil 2003 Apr;84(4 Suppl 2):S23-8 Author(s): Bach JR. Institute: Department of Physical Medicine and Rehabilitation, University of Medicine and Dentistry of New Jersey-New Jersey Medical School, Newark, NJ. Published: 04/01/03

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