Yesterday at the International Symposium on ALS/MND Prof Ammar Al-Chalabi (Director of King’s Care Centre and Professor of Complex Genetics at King’s College London) cautioned the motor neurone disease (MND) research community about the confusing way we describe this disease we are all fighting. He started his talk by showing a standard definition of what MND is, and then pointed out some of the areas that were inconsistent – or has he put it, illogical.
For example is MND described by: whether it affects the motor neurones running from the brain to the spinal cord (upper motor neurones) or from the spinal cord to the muscles – whether that’s in our hands, arms or feet (lower motor neurones)? Or is it defined by where the symptoms appear – in what Prof Al-Chalabi described as the geography – either with speech and swallowing problems, or foot drop, or clumsiness / loss of dexterity in the hand?
Asking the Dr Spock question..
To illustrate his point he shared the results of a survey he’d carried out with over 100 neurologists across Europe, North America and Australia. Firstly he asked them what terms they used to give definitions of MND, ranging from amyotrophic lateral sclerosis (ALS), primary lateral sclerosis (PLS) and progressive muscular atrophy (PMA) to ‘classical’ MND – from a list of 26 descriptions, all of them were used!
He then asked how useful a few of these descriptions were for diagnosing MND, for describing what happens to people with MND (the symptoms appear in which order etc), and on the how useful these terms were for explaining MND to patients. The clincher question was on scale of 1 to 10 how logical were the ways of describing MND, where 1 was illogical and 10 was logical. A third of respondents said that the current system was illogical – Dr Spock, the Star Trek character famous for the quote “Its illogical captain”, would have been proud!
Why do descriptions of MND matter?
The research team of the MND Association are regularly contacted by colleagues on our MND Connect helpline, by our regional care development adviser colleagues and by people affected by MND – have we heard of a particular diagnosis? From Prof Al-Chalabi’s list I recognise some of these little-used terms. Lack of clear definitions of MND are not helpful for people coming to terms with a diagnosis, adding confusion and uncertainty at an already difficult time.
They are also important for research into new treatments. Its likely that in the future drugs will be targeted for very specific types of MND, if we don’t have a clear and consistent way of describing MND, how can we hope to find those people to recruit into the clinical trials, never mind be sure of a beneficial effect.
In his final comments Prof Al-Chalabi said that describing MND by biomarkers might be a more logical approach in the future.
More information on the types of MND is available on our website.