Motor Neuron Disease (MND) is a progressive neurodegenerative disease that leads to weakness, muscle wasting, loss of mobility and difficulties with speech, swallowing and breathing. The effects of MND vary enormously from person to person; from presenting symptoms and patterns of the disease, to the length of survival.
SMA is a childhood motor neuron disease caused by a specific gene mutation, which is carried by about 1 in 40 people, making it one of the commonest genetic diseases. The most severely affected children die as babies, but others live on in to adulthood, but with significant disability.
Because we understand the defect in SMA, it is considered one of the genetic neurological diseases closest to a cure. Scientists from Oxford University are developing novel ways of treating SMA using genetic therapies. Understanding SMA better may also help us find treatments for adult MND.
Professor Kevin Talbot is the Professor of Motor Neuron Biology at a post funded by the Motor Neuron Disease Association and the SMA Trust. “MND is an umbrella term that describes a number of different conditions. It is a malignantly progressive disease that is incurable and untreatable. It is one of the worst diagnoses you can give a patient. So we start from a position that is quite bleak.”
Motor neuron diseases are misunderstood and attract nothing like enough funding. Although MND is a disease of the ageing nervous system, a significant number of patients are of working age and have children and families.
“Half the people we see are under 65 extending down to the 20s and 30s. This disease seems to arise out of good health. Patients experience frustration, puzzlement and increasing anxiety, knowing something is wrong but not what it is. So when we give confirm the diagnosis it is devastating, but can come as relief, because although life expectancy is two to three years, they know what they are dealing with. Patients have a sense of bereavement for a future they are never going to have. They are losing part of their own biography. It’s a journey of loss.”
The brain consists of billions of cells with trillions of connections which are resonating, oscillating, and communicating with each other. Kevin and his team use imaging and MRI to see inside the brain and look at the proteins, the expression of different genes in the blood, and at spinal fluid.
“In diseases where the brain degenerates we can detect alterations or losses of equilibrium in that network. We think MND disrupts the microscopic architecture and anatomy of these connections in quite a subtle way.”
Kevin’s clinic is based on the principle that caring for people produces better research because patients are willing to be part of the process. A centre where a difficult disease is looked after by clinical academics delivers greater understanding at every level and this knowledge drives the research.
“We work in partnership with patients. They want expertise, objectivity, practical solutions and information. Eventually we hope to identify people who are at risk of MND because of a genetic malfunction, and understand why this network is abnormal – years, months, decades before they get the disease. Early intervention is a much better way to deal with the problem. The vision that takes us forward over the next decade is to try and turn the disease from one which is untreatable, to one which is treatable.”