Raising the profile of Kennedy’s disease

Did you know the MND Association also supports people who have Kennedy’s disease?

In May a new clinic specialising in Kennedy’s disease opened in London at the National Hospital for Neurology and Neurosurgery.

To mark this big step in helping support and treat people with Kennedy’s disease, Katy Styles who campaigns on behalf of the Association, and whose husband Mark has Kennedy’s disease, thought it would be a great opportunity to raise awareness of this rare condition.

Katy and Mark Styles
Katy and Mark Styles

There is very low awareness of this disease amongst neurologists, healthcare professionals, the general public and within the Association itself. We do all we can to explain to everybody what Kennedy’s disease is and what it’s like to live with.

Due to the rarity of Kennedy’s disease you can feel very much alone. It is so great to be part of the MND family and the Association is key to this by making us feel part of a wider community.”

What is Kennedy’s disease?

Kennedy’s disease is a condition similar to motor neurone disease (MND) which affects motor neurones. It is sometimes called spinal and bulbar muscular atrophy (SBMA).

It is a hereditary condition which develops mostly in men, though women can have mild symptoms and be carriers of the faulty gene. It is a rare condition, with symptoms most commonly developing in men between the ages of 40-50.

Mark Styles, who was diagnosed with Kennedy’s disease in 2010, told us about how he was diagnosed:

Whilst the neurologist knew immediately it wasn’t MND, he felt it was a familial form of a neurological disease so he sent us off to find out about my wider family. Subsequent family research provided evidence that it was Kennedy’s Disease. A simple blood test confirmed it.”

Symptoms include muscle cramps and weakness leading to muscle wasting, fatigue, twitching and nerve tremors and speech and swallowing difficulties.

Like MND there is currently no cure for Kennedy’s disease, though people with the condition can expect to live for many years.

More information on Kennedy’s disease, how it is passed on down the generations, and the help you can get with managing symptoms can be found in the Care Information sheet 2B that the Association produces.

National Clinic

The national clinic for Kennedy’s disease is part of the MRC Centre for Neuromuscular Disease. You can ask your GP or consultant neurologist to refer you to the clinic.

Dr Pietro Fratta is a doctor at the new clinic, and also happens to be one of the Lady Wolfson Clinical Science Fellows that we are funding.

Dr Pietro Fratta (University College London)

Dr Pietro Fratta, University College London

Dr Fratta told us more about what will happen at the clinic and why it was set up.

“The full clinical picture of how Kennedy’s disease originates and progresses is still being established and having a single centre dedicated to Kennedy’s disease for people to attend will help increase our knowledge of this condition. This will allow us to better address and monitor all aspects of the disease in a comprehensive way.

“At the clinic you will see both a consultant neurologist and a specialist nurse, and will undergo detailed muscle strength testing, heart testing and have blood tests to monitor non-neurological aspects of the disease.

“We will discuss with you how Kennedy’s disease affects your quality of life and daily living, and you may also be offered the possibility of participating in research studies.”

Mark and Katy Styles gave their thoughts on the new clinic.

The clinic is a massive step forward. It means there is finally formal recognition that people living with Kennedy’s disease warrant specialist care and study. We cannot wait to be involved.”

For more information on the clinic email sbma@ucl.ac.uk or p.fratta@ucl.ac.uk.

Research into Kennedy’s disease

Information about the research into Kennedy’s disease being conducted at the Institute of Neurology, University College London can be found here.

Dr Fratta explained the research into Kennedy’s disease he is currently involved with.

Our current research goal is to identify disease progression markers that can make future therapy trials more sensitive in detecting treatments that are potentially beneficial. This will be done using muscle MRI scanning and screening blood samples for ‘biomarkers’ of the disease.”

They are now recruiting people with Kennedy’s disease for the above research study. For more information on this please contact the clinic or Dr Fratta directly.

Dr Fratta and Prof Mike Hanna have also set up a national register for Kennedy’s disease. You can sign up to the national register by emailing sbma@ucl.ac.uk or Dr Fratta on p.fratta@ucl.ac.uk.

Being on the register will allow people with Kennedy’s disease to be contacted about possibly taking part in studies and drugs trials, such as the project mentioned above.

Want to know more about Kennedy’s disease or the support available to you?

If you want to know more about how we support people with Kennedy’s disease you can phone MND Connect on 03457 626262 or email them at mndconnect@mndassociation.org.

Kennedy’s Disease UK is the first and only UK registered charity specific to this condition, and is run by volunteers. If you would like to know more about their work please visit their website.

Withdrawing ventilation support at the request of the patient: the ethical, moral and legal issues

Motor neurone disease (MND) can cause weakness in the chest muscles involved in breathing. This leads to shortness of breath and symptoms including disturbed sleep and headaches. Ventilation support allows a person to breathe more efficiently and can also extend survival.

The MND Association has funded research into respiratory management and ventilation support for people living with MND.

A study looking at withdrawing ventilation support at the request of a patient with MND has recently been published in the journal BMJ Supportive and Palliative Care. It was led by Professor Christina Faull, from LOROS – the Leicestershire and Rutland Hospice – in conjunction with the University Hospital of Leicester, and has been part-funded by the Association. Continue reading

Disappointing news for diaphragm pacing in MND

Results from the UK clinical trial of diaphragm pacing in MND/ALS (known as DiPALS) were published online today in the journal Lancet Neurology.

DiPALS was the first randomised clinical trial of diaphragm pacing in MND and aimed to find out whether or not diaphragm pacing was beneficial when added to the current standard treatment of non-invasive ventilation (NIV), compared to NIV treatment alone.

The trial results unfortunately show that diaphragm pacing was not beneficial when used in addition to NIV, and was in fact harmful, with people using diaphragm pacing living on average 11 months shorter than those on NIV alone.

Continue reading

Formaldehyde exposure and increased risk of developing MND

A new study published yesterday in the Journal of Neurology, Neurosurgery and Psychiatry (JNNP) highlights the link between increased exposure to formaldehyde and an increased risk of developing MND.

The study in the USA was conducted by Andrea Roberts and colleagues at the Department of Social and Behavioural Sciences at Harvard. They investigated whether a person’s exposure to formaldehyde in their occupation increased their risk of developing motor neurone disease (MND).20141020_MND Kings College_290

Formaldehyde is a colourless chemical that is used as a preservative in mortuaries, medical laboratories and by undertakers. Exposure occurs primarily by inhaling formaldehyde gas or vapour from the air or by absorbing liquids containing formaldehyde through the skin.

The study found that those with a ‘high intensity’ and probability of exposure to formaldehyde had nearly four times higher risk of developing MND compared to people who had no exposure to formaldehyde. All participants that fitted these criteria were funeral directors. The increased risk of developing MND in this occupation group was only found in men, with no link found for women.

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A clinical trial of Jedi proportions…

The MND Association is backing a new clinical trial in MND, known as MIROCALS. This will be a joint clinical trial between France and the UK that will aim to dampen the overactive immune system by increasing the amount of interleukin-2.

It is important to stress that planning for this MND clinical trial has only just started and the next step is to lay the essential groundwork and perform some short-term pilot studies. The main trial is likely to begin recruiting participants in autumn 2016.

Continue reading

An insight into TDP-43 – An ENCALS 2015 meeting report

Dr Jakub Scaber, University of Oxford, UK

Dr Jakub Scaber, University of Oxford, UK

Medical Research Council (MRC)/ MND Association Lady Edith Wolfson Clinical Fellow, Dr Jakub Scaber, attended the European Network for a Cure of ALS (ENCALS) meeting from 21-23 May 2015.

Reporting back from the event in Dublin, Dr Scaber summarised the TDP-43 session, including his presentation on recent developments in his own Association-funded research:

The fifth session of the ENCALS meeting focussed on a protein called TDP-43: This is the protein that accumulates in the brains of people living with MND and has been tightly linked to the development of the disease. Abnormal forms of this protein can be found in 98% of cases and this session had some very interesting basic science discoveries around this topic. Continue reading

ProGas study results on gastrostomy in MND published

Under the leadership of Dr Christopher McDermott, based at the Sheffield Institute for Translational Neuroscience (SITraN), research published today on 29 May 2015 in the Lancet Neurology highlights that better weight management in MND is key to survival.

Following on from initial results presented at the 25th International Symposium on ALS/MND in December 2014, the Prospective Gastrostomy (ProGas) study in MND aimed to investigate the optimal timing for gastrostomy in MND due to the lack of evidence available.

Dr Chris McDermott (Sheffield Institute for Translational Neuroscience, University of Sheffield)

Dr Chris McDermott (Sheffield Institute for Translational Neuroscience, University of Sheffield)

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Nurturing the future of MND research – new opportunity for researchers

We are pleased to announce that as well as applications for our next round for PhD Studentship applications, we are also accepting applications for our brand new Non-Clinical Fellowship scheme. These fellowships are aimed at early career researchers across a range of disciplines, allowing them to take the reins of their very own research project. University of NottinghamMNDA ResearchPicture by Vicky Matthers iconphotomedia Continue reading

Breaking the Human Genome Code

Dr Johnathan Cooper-KnockProfessor Winston Hide gave his inaugural lecture on 17 March, during Brain Awareness week, entitled ‘breaking the human genome code – opening Pandora’s box’, which you can watch in full at the end of this blog post.

Professor Hide recently joined the University of Sheffield, and MND Association/ Medical Research Council (MRC) Lady Edith Wolfson Clinical Research Fellow, Dr Johnathan Cooper-Knock has written a blog below about Professor Hide’s research and how they are working together towards a world free from MND: Continue reading

The TBK1 jigsaw puzzle

samplesFollowing on from the identification of the gene TBK1 as a contributory risk factor for MND in February, the plot thickens further with research published yesterday by Dr Jochen Weishaupt and colleagues.

Published in Nature Neuroscience, the team found mutations in the TBK1 gene as a cause of both inherited MND and frontotemporal dementia in Germany and Sweden. Continue reading