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Motor Neurone Disease (MND)

Motor Neurone Disease (MND) is a degenerative condition whereby the cells (motor neurones) in the brain and spinal cord stop working as they should. With MND, messages from the motor neurones stop reaching various muscle groups throughout the body, effecting the individual’s ability to walk, talk, eat and even breath. Perhaps the most famous person to live with the disease was Professor Stephen Hawking who managed to survive for 55 years after his diagnosis, an incredibly rare feat, as most sufferers don’t tend to live longer than 5 years.

Symptoms of MND

MND is most commonly diagnosed in adults between the ages of 60 and 70, however it can affect people of all ages and has even been known to effect people in their early 20’s. Symptoms to look out for early on include tremors in one or both hands, weaknesses in the ankle or leg, difficulty maintaining a strong grip on things as well as an overall loss of balance. Sufferers may also experience personality changes causing them to react unusually or atypically in situations where it might not be appropriate. For example, they may laugh at something sad. As the condition progresses, the individual may experience more severe symptoms including muscle paralysis or frequent twitching/muscle spasms. They may also have trouble walking, talking, breathing and swallowing. There are several different types of MND and whilst they all cause muscle weakness that gradually worsens over time, some are more severe than others, with many of them being fatal.

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When to Get Medical Help

If you have experienced any of the above symptoms for a prolonged period of time and you’re not getting better, then you should see your GP right away. It maybe that you’re not suffering from MND but getting a correct diagnosis in the early stages of the disease will help medical teams treat you more effectively and slow down the progression of the disease. Your GP will then refer you to a specialist who can carry out tests to determine whether you have MND or not.

MND testing and diagnosis

There are a variety of different tests used to diagnose MND. Which tests are ultimately used will depend on your medical history along with any further deductions made by the specialist carrying out your physical examination. Early on in your diagnosis blood tests and spinal cord/brain scans may be used to look for anything out of the ordinary such as damage to the spinal cord in the neck. Electrophysiological testing is also frequently used to measure the electrical impulses in your muscles and nerves to test for their responsiveness. Doctors may also carry out a spinal tap (or lumbar puncture) which is when a needle is inserted into the lower back to obtain samples of cerebrospinal fluid (CSF) that surrounds the brain and spinal cord acting as a shock absorber. This can help doctors deduce whether there are any signs of inflammation in the spinal cord and or brain

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Who’s at risk of MND and What Are the Causes?

Whilst the exact causes of MND are unclear, Scientists have speculated that several different elements including environmental, toxic, viral, and/or genetic factors may play a role. Causes of MND are often broken down into two main sub-categories. Sporadic causes refer to cases where the individual has no family history of the disease whilst hereditary causes are brought on by a genetic mutation, in most cases caused by the mutation of a single gene. In children/young adults MND mainly tends to be caused by genetic factors whilst in Adults, MND is more likely to be related to sporadic causation.

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MND treatment and support

There is currently no known cure for MND, however there are a variety of treatments that can help sufferers learn to manage their symptoms more effectively and achieve the best possible quality of life. The only medication that has been proven to have any kind of benefit for people with MND is Riluzole. This is used to slow down the progression of the condition by reducing the motor neurone cells sensitivity to the nerve transmitter glutamate. Riluzole can be used to relieve muscle stiffness as well as helping with saliva problems brought on by the inability to swallow effectively. Other effective treatments include occupational therapy which is used to help individuals with MND carry out daily tasks and live more independently, as well as physical therapy and regular exercise in order to help maintain muscle strength. Speech therapists can also be highly beneficial, teaching the individual a range of adaptive techniques to communicate more effectively.

Progression of The Disease

MND is a life-long condition that gets gradually worse as the disease progresses. Whilst treatments are effective in slowing down the condition, many sufferers end of succumbing to the disease within a few years of diagnosis. The type of MND the individual is suffering from will largely determine the length of time the disease takes to progress but, in many cases, MND is often fatal. Due to the gradual weakening of essential muscle groups, sufferers may have to be tube fed or need some form of breathing apparatus to help them function. They may also need round the clock care and support to help them with everyday life.

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Future Treatment

Medical science is advancing everyday with more and more successful medications being discovered for a wide range of conditions. This year alone there have been several medical trials for potential new medicines to help treat MND, with scientists having particularly high hopes for a new drug called arimoclomol which has already successfully completed a Phase 3 clinical trial assessing the effectiveness of the drug as a treatment.

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