Current Research on Dystonia

Let me introduce myself. I qualified as a doctor in 1976 and was appointed Consultant Paediatrician in 1989. Community Paediatricians were  being ‘invented’ then, and I joined their ranks based in Buxton, Derbyshire covering a large though scenic area in the Peak District. I specialised in the care of disabled children and their families. My own family has four daughters and five grandsons.

In November 1991, I suddenly developed painful hyperextension of my neck (retrocollis).After some months having seen my GP, Consultants in Rheumatology and Orthopaedics, none of whom could diagnose my illness, I was eventually seen by the Professor of Neurology at the nearest Teaching Hospital. He diagnosed ‘Cervical Dystonia’ and reassured me that although it may get worse, it wouldn’t spread to other areas of my body. I left his clinic feeling both pleased to have a diagnosis and relieved that it would be localised. 

However, over the next 7 or 8 years, all the other muscles in my body were affected by involuntary and unwelcome movements often associated with painful twisting (torsion). Around 2000, my muscles around my larynx became tight causing increasing difficulty being understood. Despite some improvement after botox injections by Mr Maurice Hawthorne, Consultant ENT Surgeon in Middlesbrough, about 2 years later I had to retire. A year or so later, I had Neurosurgery in Oxford where a Deep Brain Stimulator was inserted. Both of these treatments were generally new at this time. Together with medication, this combination of treatments has significantly improved my lifestyle retuning to golf, hiking and cycling. I‘ve remained under the expert care in both Middlesbrough and Oxford since then.

Dystonia Research 


As your readers know, the late Dr Anthony G Butler (affectionately known as Ginger) Consultant Dystonia Epidemiologist pioneered this research with colleagues at Newcastle University Medical School in 1993. For a number of reasons mostly lack of financial support, his Genetic Survey of Dystonia (GSD) didn’t start until 2003. I was one of the 1,200 patients who donated a saliva sample for future DNA analysis. Ginger’s initial work was mostly supported by Professor Patrick Chinnery, a multi skilled international expert in Neuroscience and Genetics. There were thought to be five known genes which caused different forms of Dystonia. Each gene was given a number eg DYSTONIA No 1, DYT1 etc. Several other DYT genes, up to DYT16 were likely to be associated with other forms of Dystonia but required further analysis. The study finished in 2010. Unfortunately, Professor Chinnery was unable to complete the analysis before leaving Newcastle in 2015 for a prestigious post in Cambridge University. 

Over the next seven or more years, research into the Genetic causes of Dystonia continued to advance like many other associations with other chronic illnesses. 

Among the most recent articles is :- New Genetic Cause of Dystonia Revealed, by Dr Nicccolo E Menacci and colleagues at The University of Massachusetts School of Medicine, published in The Journal of Clinical Investigation in February 2021. The details are complex for mostly non medical readers. However, it reveals an exciting new breakthrough in the field with potential future work that may lead to more specific curative treatment.

Other major research is led by Professor K P Bhaitia and his colleagues at The Institute of Neurology in Queens Square, London.


Professor Dirk Dressler and his team in Lubeck, Germany, are active in this field. A recent article,

Botox Therapy of Dystonia in The Journal of Neurotransmission earlier in 2021 showed the variable benefits of Botox injections in several forms of Dystonia:-

Blepharospasm, Laryngeal, Cervical, ‘Writers Cramp’, Segmental and Generalised Dystonia.

Additional treatment with drugs, notably Trihexyphenidyl and Deep Brain Stimulation (DBS) improve the symptoms of some of the above, especially Segmental/Generalised Dystonia which I have.

Deep Brain Stimulation 

A recent Dystonia Europe ‘Webinar’ comprehensively summarised the current advances in DBS. The team in Cologne took us on a journey from Circular Contacts in 1987 to Segmental Contacts from 2015 to current site specific areas on the stimulating wires which are ‘Tailor made’ for each patient’s Dystonia. No doubt, further refinements will continue.


Sadly, I never met Ginger Butler but I’m delighted to recognise his important work in starting to investigate Dystonia. I’ve tried to do justice to the many clinicians who have continued research.

Although, there is currently no cure for Dystonia the above updates have surely shown a light at the end of a sometimes dark tunnel. I’m delighted to be a member of the ADDER Committee which despite COVID have continued to have productive meetings thanks to Zoom!

Dr Mike Reynolds 

Retired Consultant Paediatrician.