MND breakthrough can predict disease in people before symptoms show
A major breakthrough in scientific testing could predict motor neurone disease (MND) in patients months or even years before symptoms first appear.
Tests could predict amyotrophic lateral sclerosis (ALS), the most common form of MND, a progressive and life-limiting neurological condition that causes nerve cells in the brain and spinal cord to degenerate and die.
Researchers at the National Institutes of Health have analysed data and found that key proteins in the human body spike and could now actually predict the emergence of ALS month or to years before symptoms start to show.
This would then allow specialists anticipate symptoms in patients with the genetic variant, meaning health professionals and doctors could intervene before 'irreversible motor neuron damage' tragically strikes.
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The Pre-fALS study has looked at patients in the US who have a family history of the disease and carry the gene mutation that can put them at an increased risk of developing MND, and is helping specialists to understand more about the bodily changes and biomarkers that occur before the symptoms then appear.
In 2017, an analysis of ten patients who developed symptoms showed a structural protein, called a neurofilament light chain (NfL), had actually spiked in their blood some months prior to symptoms first appearing.
Professor of Neurology and Public Health Services at the University of Miami, Michael Benatar, said: “If someone carrying an ALS-associated genetic variant had asked me in the past when they would become symptomatic, I would have struggled to provide a reasonable estimate.
"These biomarkers give us a far better idea of the timing, allowing us to estimate the time to symptom onset with an average error of about 18 months. That’s something we can work with."
The study, by the American Association for the Advancement of Science, has for almost two decades collected data and samples from patients who are considered to be at 'elevated risk' of ALS but have not been diagnosed with the disease.
Symptoms of MND to watch out for
MND is notoriously difficult to diagnose due to the initial symptoms of the disease being similar to those seen in other different neurological conditions. There is also no specific test for MND, so other conditions that can cause the symptoms have to be ruled out first.
According to MND Research, people on average receive a diagnosis of MND around a year after the initial onset of symptoms, which can further prevent people getting treatment and care sooner.
The disease causes muscle weakness that gets worse over months or years and is life-shortening. There is currently no cure, but various treatments can help to manage the symptoms.
there are a number of symptoms that could point to the early stages of MND, however because many can exist outside of the neurological condition, they are typically only cause for concern once several symptoms are present.
Muscle twitching, which has been described as feeling like a ripple beneath the surface of the skin, can be an early sign of MND. According to MND Association, there's no reason for the twitching and many people live with it for their whole lives.
A 'foot drop' can be another early sign of MND, which is when one foot feels weaker or drags when you walk and should be examined by a GP if it doesn't improve.
Stiff hands or a weaker grip are also a symptom, meaning you often drop things, but it's important to note that this also can be associated with older age or the presence of a trapped nerve.
As MND progresses, it can also then cause slurred speech due to the muscles in the face, mouth, tongue or throat weakening, while also leaving a feeling of breathlessness.
These weakened muscles can also result in difficulty swallowing food and drink, or leading to saliva causing a coughing or gagging.
Another side effect is emotional lability, which is emotional outbursts that can appear as laughing fits or bursting into tears.
If you experience any of these symptoms, reach out to your GP for support. For further advice regarding MND symptoms specifically, you can contact the MND Connect Helpline on 0808 802 6262.
James Holt