Every three days in Ireland, a person is diagnosed with motor neurone disease (MND), which is ‘arguably one of the most devastating neurological disorders' around. However groundbreaking research in Ireland is improving our understanding of this condition, an expert has insisted.
MND is the name given to a group of diseases in which there is progressive degeneration of the motor neurones in the brain and spinal cord. Motor neurones are the nerve cells that control muscles, and their degeneration therefore leads to weakness and wasting of the muscles.
This causes an increasing loss of mobility in the limbs and difficulties with speech, swallowing and breathing. There is currently no cure for the disease. Around 110 people are newly diagnosed in Ireland every year and over 300 people and their families are currently living with the disease.
According to Prof Orla Hardiman, a consultant neurologist at Beaumont Hospital and professor of neurology at Trinity College Dublin (TCD), MND is one of the most devastating neurological disorders, which usually develops when a person is in the prime of their life.
First symptoms are often minor - a slightly clumsy hand or a slight slur in the speech. However, the condition ‘then progresses inexorably'.
Most people have had symptoms for at least one year before a diagnosis is made and for the majority, life expectancy is less than two years.
"The disease marches relentlessly, robbing people not only of their physical strength, but of their future, their autonomy and their sense of control. MND robs families of normality, and turns living space into a hospital in the home, with equipment required for all activities including, in the later stages, assistance in breathing," Prof Hardiman explained.
She noted that up to 50% of people with MND will experience cognitive difficulties, with some people also experiencing a change in their personality, ‘becoming irritable, rigid and unable to control their emotions'.
However, Prof Hardiman emphasised that much has been learned about MND over the last two decades and Ireland is ‘a very good place to study rare diseases' because of our island population and higher degree of relatedness compared with other countries'.
She and her colleagues carry out their research in the Academic Unit of Neurology in TCD.
"Although we do not yet have effective drugs, the research that we and others have undertaken has contributed enormously to our understanding of this complex disease. We now know that MND is not a single condition, but a spectrum of conditions with different causes. The work performed by our group has helped the world to understand this," she noted.
In fact, research in Ireland has shown that in countries where the population is very mixed, such as Cuba, rates of MND are much lower.
Furthermore, some types of MND run in families ‘and we know that there are at least 20 causative genes, one of which we discovered'.
"Of these genes, one (known as C9orf72) accounts for at least 8% of all MND in Ireland. In Ireland we have studied families with this gene and have shown that it also causes other conditions, particularly a form of dementia, and some rare types of psychosis, obsessive compulsive disorder and bipolar disorder.
"We have also shown that there are other genes to discover in the Irish population, and some of these are also associated with psychiatric conditions - an intriguing and hitherto unrecognised association," Prof Hardiman said.
She noted that while some forms of MND appear to be entirely genetic in origin, ‘most forms are probably caused by interactions between genes and environmental exposures'.
"We are leading a series of European studies to understand how these interactions might cause disease, and how we can intervene to slow down progression," she said.
She also pointed out that the TCD group has made ‘important contributions' to the development of drugs for MND.
"We have been one of the key European centres for new clinical trials for MND, and we are also developing our own compounds that we hope to bring to patients in the next two years," she said.
But in the meantime, it is essential that patients receive the best care possible.
"We were the first group in the world to show that multidisciplinary clinics improve outcomes for people with MND, and the model of care that we provide is now replicated throughout the world. We strive continuously to improve care, and we are leading a large European consortium to study the patient journey, and to identify the best ways by which our care can be integrated with that provided by our colleagues in palliative care," Prof Hardiman said.
However one major issue that hangs over MND and other neurological disorders is the lack of neurologists to treat these conditions.
Over 700,000 people in this country have neurological disorders, of whom 90,000 are disabled and 25,000 need assistance with every day living. Yet, there are currently just 34 consultant neurologists in Ireland - giving a ratio of one doctor to every 130,000 of the population. This is ‘by far' the lowest ratio in Europe, Prof Hardiman noted.
In Italy, there is one consultant neurologist for every 8,000 of the population, in Portugal, the figure is one to 35,000 and in France, one to 38,000.
"The World Health Organization has noted that neurological conditions represent one of the single biggest challenges to health services in the 21st century. Age-related conditions such as Alzheimer's disease, Parkinson's Disease and MND lead to progressive degeneration of parts of the nervous system, with devastating consequences.
"Up to 30 million worldwide are currently affected by neurodegeneration, and within the coming 20 years, the frequency of neurodegenerative diseases is likely to increase by at least 230%," Prof Hardiman said.
However despite this, she remains optimistic for the future.
"MND is a devastating condition but we share the objective of the Irish MND Association, and that of colleagues across the world, to make a world that is free of MND. Given the talent and dedication of my own team, and our European friends and colleagues, I am very confident that we will succeed."
Prof Hardiman spoke about this issue at her recent inaugural lecture in the Trinity Biomedical Sciences Institute, TCD.
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