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One week; one drug; one chance to walk again

Medical research aims to better understand and treat a plethora of different human diseases. But it is not often that scientists see their research translated directly to the clinical setting, and rarely are they are able to watch it have an immediate effect on patients. In this blog, Lauren Howson describes a remarkable new treatment for chronic muscle weakness developed by Professor David Beeson, a scientist in the Neurosciences department at the WIMM, which within a week of treatment allowed a wheelchair-bound patient to walk again.

Congenital Myasthenia is a disease that causes muscle weakness due to genetic mutations that alter the way the nerves send messages to the muscles.

The severity of disease can vary; sometimes affecting muscles of the face or the ability to swallow, but in very severe cases it can also impair mobility. This debilitating disease currently has a number of different treatment options as the outcome of each therapeutic strategy differs among patients.

Professor Beeson’s research group focuses on understanding the principles underlying Congenital Myasthenia, with a focus on the different genetic components contributing to it. It has been found that mutations in at least 20 genes are associated with the disease, but for around 40% of cases, the underlying genetic cause is still not known.

By net_efekt via Flickr

By net_efekt via Flickr

The treatment Professor Beeson suggested was an existing drug called Salbutamol that is currently used to treat asthma. The drug binds to receptors on muscle cells and causes them to relax.

Drugs similar to Salbutamol had worked to treat myasthenia in other patients, and led the way for testing whether Salbutamol would be an effective treatment in a 17-year old boy with a severe case of myasthenia who has been unable to walk for seven years.

After giving Salbutamol along side the patient’s standard treatment, which he had been taking since he was four years old, within three days the patient could stand, and in a week it had restored the his ability to walk.

Professor Beeson said: ‘It is incredibly rewarding to see results like this. Over the last couple of years we have seen patients rise from their wheelchairs within months, but this case is quite exceptional.’

This extraordinary result paves the way to gaining a greater understanding of Congenital Myasthenia and the different drugs that can be used to treat it, and provides hope to many patients who currently suffer from this debilitating condition.

Read more about the effects of salbutamol on a different patient with Congenital Myasthenia in this study published by Professor Beeson’s lab in February 2013.

Post edited by Bryony Graham.


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