What will patients be told on diagnosis?
Many neurologists regard giving a diagnosis of ALS/MND to a patient as one of their hardest tasks, because of the grave prognosis typically associated with this condition. The parallels with oncology are very close (although most cancer patients will be offered some form of disease modifying treatment). There is an inevitable balance to be struck between avoiding delay but at the same time ensuring that the diagnosis is secure. Occasionally time is the greatest and only diagnostic aid. Once the term MND is mentioned as a possibility it is very hard to take back.
Patients need to be informed as soon as possible so that they can make arrangements and maximise their remaining good quality of life before significant progression of their symptoms and disability takes place. 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.
Generally one should try to give honest answers to questions about prognosis, recognising that people differ in the amount of information they wish to receive, and bearing in mind the enormous and largely unpredictable variation in progression and prognosis from patient to patient.
Whilst it is tempting to offer the patient the hope of a ‘plateau-phase’ to their illness, this is virtually never seen in MND. In general, the rate of an individual patient’s deterioration remains constant.
Can MND be familial?
Yes. Familial MND (FMND) accounts for only 5-10%of the total MND caseload. It is estimated that there are approximately 200-250 cases of familial MND in the UK. When someone is newly diagnosed with familial MND it is possible that the whole extended family will need support. In these circumstances the family may have seen MND at close hand in another family member or members and frequently recognise the symptoms before a confirmed diagnosis has been given.
FMND is typically an autosomal dominant condition. Offspring have a 1 in 2 chance of inheriting the faulty gene from an affected parent. Viewed in isolation familial cases are indistinguishable from more common sporadic disease. It is therefore important to ask about a family history.
Importantly for the vast majority (>70%) of such apparently autosomal dominant families, the genes responsible are not currently know, so continued uncertainty about the future is the most common outcome of engaging in genetic testing at present.
Where a known gene is detected, there is also the issue of ‘incomplete penetrance’, (80% by 85 years of age for superoxide dismutase-1, SOD1, gene mutations), meaning that up to twenty percent of people carrying the faulty gene may reach the age of 85 without developing the disease. This gives rise to the appearance of ‘obligate carriers’ in the family tree (family members who must carry, and have passed on, the faulty gene but who have not developed the disease themselves). There are other circumstances where a family history might be lacking; perhaps due to the late onset of the disease, other family members may die of something else before they develop MND (heart disease for example). This can be misleading and give the appearance that the disease has skipped a generation. Other families appear to have had no MND cases previously, either through insufficient information about previous generations or because previous generations did not live long enough, but subsequently two or more siblings develop the disease.
Is depression a common symptom?
Patients and carers may suffer profound depression following the diagnosis of MND, but it is not over-represented when compared to the general population and may (controversially) be less common. Even in the absence of frank depression, emotional lability ('crying one minute, laughing the next') is a frequent symptom seen in MND and reflects involvement of corticobulbar pathways. It is important to reassure patients that it is not a sign of early dementia, (which affects less than 5% of patients in an obvious way, although a spectrum of mild cognitive changes, that may not intrude on daily life, may affect over 30% of patients). SSRI or tricyclic anti-depressants can be of benefit. Hence it is clear that MND is not simply a motor system disorder and that other areas of the brain are affected.
Is mental capacity an issue in MND?
The vast majority of MND patients have predominantly motor symptoms and mental capacity is not an issue. However it is now clear that MND affects areas of the brain beyond the motor system, but to sub-clinical degrees that are only detectable by detailed neuropsychological testing. MND shares the same pathological signature as ‘pure’ Frontotemporal Dementia (FTD). Frank FTD affects <5% of MND patients, and may be the presenting feature, with weakness and wasting following later. When FTD does occur with MND it is associated with more aggressive disease and frequently loss of mental capacity. Signs of FTD include apathy, disinhibition, loss of insight and unusually narrow food preferences
Is there a specific treatment for MND?
Riluzole, a glutamate release inhibitor, is the only agent licensed worldwide for the treatment of MND. It is not a cure, but has been demonstrated to have a modest beneficial effect on survival in large placebo-controlled trials. Riluzole will not make patients feel better, and there is no way to be certain of the extent of individual benefit from taking this drug. However, it remains the only disease-modifying drug treatment for MND (or any other neurodegenerative disorder), and many patients feel strongly that they should have the chance to take Riluzole despite its modest effect. It has been endorsed by the National Institute for Health and Clinical Excellence.
Treatment with Riluzole requires monitoring of liver enzymes and full blood count at baseline and monthly for the first three months, then three monthly for the first year, and annually thereafter. Any significant rise in transaminases requires initial dose reduction to 50mg once daily and further monitoring, and if persistent, then drug withdrawal. Such cases are very rare. Common side-effects of Riluzole including fatigue, nausea and mild non-specific GI symptoms are more likely reasons for patients to stop riluzole therapy.
Many patients elect to take a variety of over-the-counter anti-oxidant preparations such as vitamin E and C, although firm evidence of benefit is lacking.
What support and information is available?
The Motor Neurone Disease Association in England, Wales and Northern Ireland, and the Scottish MND Association provide support to patients and their carers on all aspects of MND, along with information packs for GPs.
Regional Care Development Advisers (MND Association) and MND Clinical Specialists (Scottish MND Association) are available to advise and educate professionals and patients. The Associations 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 patients with MND.