NEWSLETTER NO. 23, November 2009


AGM 27 March 2010 at 1.30 pm at Stanway Hall.  Please come along.

Your Chairman and committee wish you and your family a very Merry Christmas & a Happy New Year   We are pleased once again to send MD sufferers a Christmas cheque for £20 & we hope you enjoy spending it.  By the way, do you have an email address that I can use in future?  Please let me know.

At the end of July we lost Annie Jackson from MD, due to a change in management structure.  We have yet to see how well the new structure works but all the Regional Fund-raisers have been made redundant and replaced by a small number of Fund-raisers based in London.  Elizabeth Gordon (Lizzi) is the one covering Colchester.  We will find out how well the new fund-raising system works over the ensuing months but there will be a considerable reduction in wages paid from this area although redundancy payments have also had to be made.  We have wished Annie all the best from everyone in our Group.  Lizzi Gordon has already attended one of our meetings and we were impressed with her.


There has been much exciting news over the last few months which have made many of us realise that there will be treatments emerge for MD sufferers over the next few years but it is a case of when and how effective these treatments will be.  King?s College London has thrown new light on the biology of muscle stem cells, bringing us a step closer to using them for muscle disease. 

Considerable progress has been made by Dame Professor Kay Davis? laboratory at Oxford into finding treatments for Duchenne.  Researchers in USA have reported promising results for phase 1 of a clinical trial of gene therapy for Limb Girdle MD type 2D.  There are encouraging signs that it may prove to be successful in the future.  Further trials will be needed before a possible treatment can be developed. 

Research led by Professor Kate Bushby at Newcastle University has discovered a new cause of Limb Girdle MD type 2B which has identified a biological process involved in causing the forms of muscle disease known as dysferlinopathies.  Scientists will now investigate whether manipulating this process could lead to a treatment.

A project led by Professor Francesco Muntoni at Dubowitz Neuromuscular Centre in London has completed the first comprehensive study of Ullrich Congenital MD symptoms which will enable doctors to better inform patients of the likely progression of their condition & help clinicians to treat it.

Research in USA has found that direct replacement of dystrophin with the closely related protein called utrophin was successful in treating a mouse model of Duchenne.  Further research is being carried out to try and find a way to use utrophin to prevent or delay the development of symptoms in boys with Duchenne.

Prof. Charles Thornton's research group at University of Rochester New York have restored normal muscle function in a mouse model of Myotonic dystrophy which may help in finding treatment for the disease and may even be able to reverse the symptoms.  Research is continuing before the effectiveness can be tested in humans.

Further research in USA has discovered that a new therapeutic strategy currently in clinical trial for Alzheimer's disease may also be applicable to patients with Inclusion Body Myositis.

A study in mice has provided evidence that transplanted muscle stem cells might be able to repair muscle damaged by MD, suggesting that stem cell therapy may be effective in older people affected by Duchenne as well as in younger people where the condition has not progressed as far.

New research has evaluated the North Star Ambulatory Assessment as suitable for use in large clinical trials.  It is used to measure the muscle function of boys with Duchenne who can still walk.  This assessment takes less than 15 minutes & can be used to accurately determine any improvement after treatment.

Australian scientists have successfully treated a severe type of Actin Congenital Myopothy in mice by replacing the missing actin protein with another similar protein from the heart.  This may lead to therapy for patients with this disease.

Researchers at Oxford University led by Dr. Matthew Wood have improved exon-skipping technology for Duchenne MD.    Molecular patches were modified by chemically joining them to very small protein molecules known as peptides, which help the molecular patches to penetrate cells more efficiently.  The modified molecular patches were injected into mice which lacked dystrophin & were able to demonstrate that dystrophin production was effectively restored throughout the body.  Previous trials have not been effective in heart muscles & this represents a major improvement to the therapeutic potential of this technique.   As always human trials will need to be accomplished before the efficacy of this technique can be verified.

It has been shown that the drug Omigapil, a treatment for Parkinsons disease, can improve symptoms of Congenital MD type MDC1A.  Mice receiving Omigapil had healthier muscles & tended to live longer.


We now have access to funds locally for equipment for children with MD.  We have the very generous offer of £500 per month -- contact Gina or Chris if you need some of this money.  MD Campaign are actively campaigning for improved access to specialist services for people with muscle disease & if you wish to get involved in your local muscle group email

Trailblazers have produced an undercover transport report which revealed that disabled people are forced to pay more for public transport -- see Trailblazers website.  They have now turned their attention to access to higher education & have revealed that disabled students from across the country are being penalised when choosing a university.  So, they then set up a Clearing Helpline on Thursday 20 August which made headlines across the UK.

The Walton Report has criticised NHS decision makers for effectively shortening the lives of vulnerable children & adults due to failings & gaps in specialist care.  The report received much media coverage.

Campaigning  Muscle Groups have made an impact across the country & recruitment has now started for the new NHS care advisors & a clinical network manager in the South West.  The NHS in the West Midlands is now also conducting an official review of neuromuscular services.  To join your local muscle group call Alexandra Crampton on 020 7803 2865 or email

Information on the new Regional Care Advisors can be accessed on the website or support obtained on 0800 652 6352 or email at 

Fed up of dialing 0870 or 0845 numbers & being charged for every minute -- try the following website: and see what other number the site can provide for you, sometimes even free!

WARNING Anyone with a neuromuscular condition who needs an anesthetic must ensure that both the surgeon & anesthetist are aware of their condition, its implications & of the need for caution as far as anesthetics are concerned.  With a planned operation there should not be a problem but emergency treatment can present enormous risks if great care is not taken.  The wearing of a medical alert bracelet or pendant and carrying an alert card detailing the condition is a must for anyone suffering from a MD condition.  You should also talk to your neuromuscular specialist about what to do should you need an anesthetic.  There have been deaths where MD sufferers have had emergency treatment without the problems of anesthetics being raised.


  • Chair: Chris Jenkinson, 60 Marlowe Way, Lexden, Colchester CO3 4JP; 01206 520986;
  • Secretary: David Fremlin, 25 Ireton Road, Colchester CO3 3AT; 01206 767746;
  • Welfare/Treasurer: Gina Clementson
  • Committee: Maria Fremlin (, Beryl Leeks, Jan Jarman, Julia Newlove, Janet Saunders.

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