Motor Neurone Disease (MND) is a progressive neurological disorder that leads to muscle weakness and wasting and is also known as ALS (Amyotrophic Lateral Sclerosis).
HOW FREQUENT IS MND?
The incidence of MND is 1 in 30,000. The Irish MND Group established a database of people with MND in the Republic of Ireland in 1994. They have found that approximately 80 people in the Republic of Ireland develop MND annually, and that there are around 200 people affected by the condition at any time.
WHAT CAUSES MND?
There are probably a variety of different causes of MND. It is likely that some people have a genetic susceptibility to developing the condition, and that environmental factors can interact with these genetic risks. These factors combine to affect the function of motor neurones Link. Although there has been a lot of research into possible environmental factors, no conclusive causes have been identified.
Research Motor Neurone and other groups have been interested in exercise as a risk for developing MND. They suspect that a lifetime background of intense exercise may slightly increase the risk of developing MND in some individuals. Preliminary findings support this hypothesis, and a large European study is planned to establish whether this is truly the case.
DOES MND RUN IN FAMILIES?
MND can run in some families. This happens in up to 10% of patients. In the remaining 90% of cases, the disease occurs sporadically. Many groups have looked for genes causing familial MND. At least 5 genes are known to cause MND. However, the commonest by far is the gene SOD1, which accounts for 20% of familial MND in the United States. SOD1 mutations are rare in the Irish population. Research Motor Neurone have been looking for genes that might increase the risk of developing MND in non-familial MND. They have found another important gene in about 1% of the population that can cause both familial and non-familial MND. This gene is called ANG, and makes a protein called angiogenin. Mutations in ANG seem to be most common in Irish and Scottish populations, but are still quite rare even in these populations. However, their discovery has shown that angiogenin is an important protein within the nervous system, and this has opened up a new direction in research that is likely to lead to the development of approaches towards treatment.
DOES QUALITY OF LIFE DECLINE AS THE DISEASE PROGRESSES?
Research Motor Neurone believe that a central tenet of managing MND is to preserve and enhance quality of life (Qol). Quality of life is difficult to measure, as most scales use “health” as one of the areas of measurement. They therefore measured individualized quality of life in MND, using the SEIQoL, designed by their collaborators at the Royal College of Surgeons in Dublin. In SEIQoL, patients nominate what is important to them. Their work has shown that although health related quality of life declines as the disease progresses, individualized quality of life, as measured by SEIQoL does not. This is an important observation in assessing the impact of health care initiatives.
WHAT IS THE STANDARD OF CARE FOR MND?
The Irish MND Group was the first to conclusively demonstrate that multidisciplinary clinics for MND confer a survival advantage, independent of other factors. This is a very important finding for public health services and health planning. Their work has since been replicated in other countries.