HEALTH ZONE – Motor Neurone Disease/MND/ALS Introduction
Stephen Hawkings suffers from Motor Neurone Disease
Motor Neurone Disease (MND) is a very rare neurological condition which robs sufferers of the ability to walk, speak, move their limbs, and eventually breathe. At present there is no effective treatment and the disease usually proves fatal within 2-5 years. In the United States, MND is called either ALS (short for Amyotrophic Lateral Sclerosis) or “Lou Gehrig’s Disease” after a famous baseball player in the 1930’s who died from the disease. Other famous sufferers of this illness include the actor David Niven, the cosmologist Professor Stephen Hawking, and the euthanasia campaigner Diane Pretty.
MND is a rare disease, developing in about 1/100,000 people each year. In the UK it is estimated that there are only 5000 patients, with about 30,000 in the USA. Whilst the incidence rate (number of new cases each year) is similar to that of a more common disease such as multiple sclerosis (MS), the high mortality rate associated with the disease means that there are few people living with the disease at any one time. Approximately half of all patients die within 14 months. One in five patients will survive to five years, and about one in ten will survive to ten years.
The underlying cause of the disease is damage and death of the motor neurones. These can be thought of as lines of communication between the brain and the muscles of the body, which send signals to grow muscle and command movements. When these motor neurones cease to function, muscles fail to respond to commands and without continuing signals to maintain their size, they start to waste away (atrophy). Other symptoms include muscle fasciculations (twitches), spasticity, slurred speech, foot drop, and fine motor movements.
The vast majority of cases (95%) are ‘sporadic’, which means the disease appears out of the blue, typically affecting adults between the ages of 55 and 65. However younger patients do exist, with sufferers as young as 18 being reported in the past. In a small proportion of cases (~5%) there is a family history of the disease, and the disease is passed on genetically. Where MND is familial it is normally autosomal dominant; this means that as with Huntington’s Disease, the child of a Familial MND patient has a 50/50 chance of developing the disease in the future.
Currently there is only one drug licensed in the UK and USA for the treatment of MND, called Riluzole. This is a glutamate antagonist which has been shown in clinical trials to extend life by about 2 months on average. Patients taking Riluzole do not subjectively feel any better, and the medication may work by keeping patients in the earlier stages of the disease for longer. It may also have more effect on those patients who get their first symptoms in their throat region (bulbar onset).
Other than Riluzole, treatment is palliative and directed towards treating symptoms, and is a multi-disciplinary affair. Physiotherapy is important for maintaining joint mobility and tracking physical decline. Occupational therapists may prescribe splints, eating aids, walkers, and wheelchairs to assist with mobility. Speech and language therapists may advise on swallowing techniques, assisted cough, and may prescribe alternative speech devices such as a Litewriter or laptop computer. When the disease advances to the stage that the patient can no longer eat solid food, a feeding tube called a PEG (percutaneous endoscopic gastrostomy) or RIG (Radiologically inserted gastrostomy) may be inserted to maintain body weight and nutrition. When respiratory muscles begin to fail, respiratory consultants and nurses may prescribe use of non-invasive ventilation to assist with breathing at night to improve sleep. Non-invasive ventilation only proves useful for a limited period of time, however, and the only way to maintain life for extended periods is with an invasive ventilation or tracheostomy. However by this stage the patient risks becoming in a “locked-in” state, unable to move or communicate and completely dependent on others for all daily functions. In the UK and USA, few patients opt for invasive ventilation and few health providers offer it. By contrast, invasive ventilation is routinely practised in Japan and up to a quarter of Japanese MND patients are currently on an invasive vent.
Drugs used in the treatment of symptoms include baclofen for spasticity, citalopram for uncontrollable laughing or crying (also known as emotional lability or pseudobulbar affect), prozac-type SSRIs for depression, benzodiazepines for anxiety and breathing difficulties, and in later stages opiates for pain management.
Other sources of support
People with MND and their families need support from a number of places. The family itself is an important source of emotional and spiritual support, and are also likely to give a lot of their time in assisting the patient with daily care. It is important that friends and relatives continue to visit patients with MND; sometimes people feel uncomfortable visiting someone who is sick and worry that they will upset them or become depressed that they can not help. Whilst there is a risk that this might happen, it’s much more likely that by no longer visiting the patient, he/she will feel more isolated and lonely. Friends and neighbours can provide invaluable respite to the primary carer (usually a spouse, child, or parent) for instance by offering to take their kids to school, do their shopping, or give them lifts in their car.
Statutory services such as social services and healthcare have certain responsibilities which they must fulfil but are rarely trained to deal with such a complex and rapidly progressive illness such as MND. In the UK the main additional source of support comes from a registered charity, the Motor Neurone Disease Association (MNDA). They have an information telephone hotline, train medical professionals, provide information leaflets for patients and doctors, fund research, pay for specialist clinic coordinators, raise awareness, campaign for more resources, and fund a network of regional care advisers who assist patients at the local level. In the USA, the equivalent body is the ALS Association (ALSA).
There are also a number of sources of support online. The BUILD forum (building user involvement in MND) is the UK’s largest forum for people affected by MND (>250 members) and offers support, advice, and friendship from other patients and carers affected by this terrible disease (www.build-uk.net ). In the USA there are a number of useful sites including the ALS forums at Braintalk, hosted by Massachusetts General Hospital. (http://brain.hastypastry.net/forums/forumdisplay.php?f=77// )
Research into MND
There are a number of strands of research currently underway throughout the world with the aim of understanding, treating, and eventually curing MND. In the UK, the MNDA has established a DNA Bank which will collect blood samples from 1000’s of sporadic and familial patients, as well healthy volunteers, to search out genes that may predispose some individuals to getting the disease. In the field of Neurology, large scale drug trials are ongoing which involve multiple centres across Europe or North America. At present, the diagnostic process for MND is very slow (up to 2 years) during which time the patient suffers a lot of stress. Efforts are underway to speed up the process of diagnosis, either by finding some sort of systemic marker (such as a blood test) or with non-invasive imaging such as MRI (Magnetic Resonance Imaging) brain scanning techniques. A small number of people with MND also develop dementia or mild cognitive problems and neuropsychologists are investigating who might be more likely to develop these and what can be done about.
How you can help
If you’ve read this information sheet and are interested in doing more there are several places you can go. The Institute of Psychiatry in South London, UK, always requires healthy participants for research projects, some of which are investigating MND or other brain disease. You can register for their participant database, “PsychPop”, at www.psychpop.net. To find out more about your local MND/ALS association go to the website for the International Alliance of ALS/MND Associations at http://www.alsmndalliance.org. You might like to consider joining a local branch as a volunteer or making a donation to research. There will be a cure for MND, but it is hard to say how long it will take. That length of time is however affected by three big factors: money for research, time for care, and awareness for the public. If you can contribute in any way you’ll be helping us in the fight.
This information has been generously supplied to the BioTrax Volunteer Support Group by :
Dr.Paul Wicks at the MRC centre for Neurodegeneration research.
Medical research studies may be conducted and are carefully designed to answer specific medical questions while protecting participants� safety. Well conducted medical trials are the fastest and safest way to find improved treatments and preventions for diseases. Clinical trials or interventional trials determine whether experimental preventions, treatments, or new ways of using known therapies are safe and effective under controlled conditions. Observational or natural history studies examine health issues and disease development in groups of people or populations. For more information on current medical trials or to register on the BioTrax database, view the study section at www.biotrax.com