Ten Carat Talent - The Dystonia Society

Dystoniamatters!
Issue 80 / Summer 2013
Ten carat talent
Our new
medical adviser
Page 15
Dystonia and the
basal ganglia
Page 19
Printing is supported by an unrestricted grant from Ipsen Ltd
When the
injections don't
work Page 23
The Dystonia Society exists to support people who
have any form of the neurological movement disorder
known as dystonia, and their families, through the
promotion of awareness, research and welfare.
THE DYSTONIA SOCIETY
Registered Charity No. 1062595
Scottish Registered Charity No. SC042127
Company limited by guarantee No. 3309777
Dystonia Society, 2nd floor
89 Albert Embankment
London SE1 7TP
Office: 0845 458 6211
Helpline: 0845 458 6322
Fax: 0845 458 6311
email helpline:
[email protected]
email other enquiries:
[email protected]
www.dystonia.org.uk
Newsletter published during
January, April, July and October.
We welcome new ideas for the
newsletter, please call the Editor
to discuss your ideas. Items
intended for publication should
be submitted to the Editor, eight
weeks before publication.
Cover shot: BUPA London
10,000 runners in Green Park
Medikidz explain dystonia
management
ROYAL PATRON
HRH Princess Alexandra, KG, GCVO
their health conditions.
In the comic book, the team
help a young girl called Lauren
learn more about her dystonia.
PATRONS
Lord Macdonald of Tradeston, CBE
Fiona Ross, OBE
CHAIR
Joanna Atkin
VICE CHAIRMAN
Roger Edmonds, FCA
TRUSTEES
Shona Baxandall
Christine Chapman
Nirma Gill
Mike Newbigin, Honorary Treasurer
Penny Ritchie Calder, MBE
Alec Sandison
CHIEF EXECUTIVE
Paul King
MEDICAL ADVISORS
Professor Tom Warner, PhD, MRCP
Dr Mark Edwards
Dr Marie-Helene Marion
FOUNDER
The late Joan Young
Together with Medtronic UK
and an organisation called
Medikidz, who specialise in
developing medical information
for children, we have created
a 16 – page comic book for
children about dystonia and
its management.
The Medikidz are a team of
medical superheroes who help
children understand more about
We are hoping that the comic
book will be helpful both for
children learning about dystonia
and also for use in schools to
help children explain their
dystonia to their friends and
classmates.
A free version of the booklet
can be read online – you can
access it on our website
www.dystonia.org.uk through
the ‘About dystonia’ menu.
A hard copy can be purchased
for £4. Anyone who has a
child with dystonia can obtain
a free hard copy by calling our
helpline on 0845 458 6322.
WRITERS
Bernie McMahon
Joanne Day
DESIGN
Sarah Davies Design: 01726 834833
Perfect World Communications:
0870 770 9386
1
www.dystonia.org.uk
Helpline: 0845 458 6322
2
Welcome to the
Summer newsletter
A warm welcome
to Dr Marion
We are delighted to
welcome a new medical
adviser, Dr Marie-Helene
Marion. Dr Marion has
provided a huge amount
of support for the
Society and its members
over many years and
we are very pleased that
she agreed to take an
adviser role. You can
learn more about Dr
Marion on page 15.
We are very grateful
to Ipsen Ltd for
their generosity in
providing a significant,
unrestricted grant to
support the newsletter.
Overall, botulinum toxin is an effective
treatment and provides substantial relief
for the majority of those who receive
injections. However, one of the important
findings of our treatment questionnaire
last year was that a minority, around a
third, were getting very limited relief.
It was also clear from the responses
that many were uncertain what steps
could be taken if botulinum toxin
injections were to lose their effectiveness.
To address this, we developed some new
information about what steps can be
taken when the injections aren’t working
(see pages 23 – 26).
Another finding of the questionnaire
was how helpful many respondents
found allied health treatments such as
physiotherapy, psychological support
and pain management but also how
many couldn’t currently get access to
these treatments. To encourage the
medical profession to take more interest
in these areas we have designated some
funds to support seed funding research
in one or more of these areas and are
requesting proposals. You can find
more details on page 5.
Paul King Chief Executive
3
www.dystonia.org.uk
Dystonia conference in
Edinburgh, September 6 – 7
A one-off opportunity for
people with dystonia to hear
many of Europe’s leading
dystonia experts.
Dystonia Europe represents
dystonia patients across Europe
and has a longstanding
relationship with the Dystonia
Society. It is celebrating its 20th
Anniversary with a conference
in Edinburgh and they have
assembled a prestigious list of
speakers.
The title of the conference is
‘Achievement and Hope’. It is
a unique opportunity as all the
speakers will be giving talks
specifically targeted at patients.
From the UK speakers include:
Professor Kailash Bhatia, Professor
Tom Warner, Professor Marjan
Jahanshahi and Dr Jean-Pierre Lin.
The agenda will be:
Friday 6th Sept: morning
The past 20 Years – How
knowledge and treatment
of dystonia have improved
(includes sessions on
medications and DBS)
Friday 6th Sept afternoon
Dystonia research in 2013 and
beyond (includes sessions on
genetics and botulinum toxin)
Saturday 7th Sept morning
Living with dystonia
(including sessions on physio,
pain and psychology)
The fee for the conference is
£85 per person which includes
lunch on both days and tea and
coffee during the sessions. It is
also possible to attend a Gala
Dinner on the Friday evening
for an additional fee.
You can find more information
relating to the conference and
a booking form on the Dystonia
Europe website: www.dystoniaeurope.org
New research
project
Eva May Brown
The Society is designating £40,000 to
provide seed funding research into one or
more projects in allied healthcare such as
physiotherapy, psychological support and
pain management. Our treatment questionnaire identified that many respondents
found such treatments helpful but also
that many couldn’t currently get access
to them. We hope that the funding will
trigger interest in these areas among
medical professionals and that the
institutions we fund will move on to
obtain bigger grants in from larger
funders as a result of our initial support.
We are currently asking for proposals
and hope the projects we fund will start
in the autumn.
Donald Aubrey
Wright
Disability Awareness Day
Donations
in memory
We offer our sincere
condolences and
grateful thanks for
the many donations
received in memory
of loved ones:
✻
✻
✻
✻
✻
✻
✻
Jennifer Boxall
Ellen Mary Lamb
Jillian Smith
Florence Hunter
Grenville Lawrence
Jones
Disability Awareness Day is on Sunday
14 July this year in Warrington, Cheshire.
A great day out for all the family; there is
free entry, with lots to see and do, and a
free Park and Ride. Jane Hewertson and
friends from the Liverpool Dystonia Society
Support Group will be pleased to see you
at the Dystonia Society stand.
5
www.dystonia.org.uk
For more information you can ring Jane
on 0845 899 7101 or visit the website:
www.disabilityawarenessday.org.uk
Living with
Dystonia Events
Two successful ‘Living with dystonia’
events have been held in the past
few months.
The first was an
event held in
Birmingham which
was attended by
about fifty people
affected by voice
dystonia. Thanks go to our two speakers
from Queen Elizabeth Hospital, Birmingham;
Mr Declan Costello, Consultant Ear, Nose and
Throat Surgeon and Karen Haselden, Speech
and Language Therapist, pictured above
with Angie Brown, Society Helpline Manager
and Roger Edmonds, Vice Chair of Trustees.
Nearly sixty people
attended an event held
in Leeds, Yorkshire for
all forms of dystonia.
Dr Richard Grunewald,
Consultant Neurologist
at the Royal Hallamshire Hospital was the
keynote speaker and our thanks go to him
and also the workshop leaders.
Upcoming
events
October tbc
South West
All forms of dystonia
November tbc
London
Neck dystonia
We are currently
checking levels of
interest for the above
events to be held in
the autumn / winter
of this year. If you
would be interested
in attending please
let us know.
For information and
booking please contact
Bernie on 0845 458
6211, email her at:
info@ dystonia.org.uk
or visit our website:
www.dystonia.org.uk
The Younger Adults Facebook Group held its first in-person
meeting during Awareness Week in London. A number of young
people with dystonia met in a bar near head office organised
by group co-ordinators Jess Horton and Nick Calder-Bundy.
6
Jackie Deakin and
Newbigin Family Essay Prize
Every couple of years the Society
runs an essay prize for medical
students to encourage them to
become interested in dystonia.
Some past winners have gone
on to be successful neurologists
and researchers. This year’s prize
was generously funded by Mike
and AnnMarie Newbigin and
the Deakin family. The prize was
extremely competitive and the
standard of the essays was
excellent. Thanks very much
to our panel of judges:
Dr Mark Edwards (Chair),
Dr Tim Harrower, Dr Hardev Pall,
Dr Peter Moore, Dr Huw Morris
and Professor Tom Warner.
Congratulations to all the winners.
You can find their essays in the
Professionals / Research section
on the Society’s website.
1st prize: Claudia Pisarek
Deep brain stimulation and
dystonia: mechanisms of
efficacy and advances in our
understanding of dystonia
pathogenesis.
2nd prize: Arun Arujun Bhaskaran
Unmasking the true
pathophysiology of dystonia.
3rd prize: Phillip Correia Copley
Deep brain stimulation – The
Importance of Patient Selection
3rd prize: Lilia Dimitrov
Could the musical world hold the
key to understanding dystonia?
3rd prize: David Ferguson
Dystonia: Where Now?
Using sport and the media to
increase awareness of dystonia.
3rd prize: Emily Heathfield
Dystonia and Brain Iron
Accumulation.
3rd prize: Jing Ouyang
The Role of Neuronal
Plasticity in Dystonia
7
www.dystonia.org.uk
Awareness Week
Held between 4 – 12 May this year
Collection boxes
Oxford display
Staff Bake Off
Thank you to everyone who raised
awareness funds for
the Society through
using the collection
boxes. We are very
grateful for your
continued support.
Roger Taylor of the
Oxford Support Group
arranged a dystonia
display at Farringdon
Library during the
week – a great idea!
Staff here at the
London office raised
almost £200 at our
Awareness Week
cake stall in the
foyer of our office
building. Thanks to
the volunteers who
helped on the day
by selling cakes and
raising awareness
Cornish tea
Janet Tripp held a
Tea Party in Cornwall
to raise awareness of
dystonia and macular
degeneration. Thank
you very much Janet!
Awareness hits!
Carol Powell wrote a
song to raise awareWalk to success
ness about dystonia
We had many walkers and in the month
take part in the annual before Awareness
Keswick 2 Barrow walk Week, she went on
BBC Radio Berkshire
for dystonia. Thanks
to talk about the
to the Furness and
song and dystonia.
South Lakes group
leader, Gill Jepson for The Berkshire Support
Group, above, then
organising it. Look
starred in a music
out for more on the
video and they have
K2B in the next issue
put this on YouTube.
of Dystonia Matters.
Union Success
Valerie Anstice
proposed a motion
to the Union of
Shop, Distributive
and Allied Workers
(Usdaw) to formulate
a health leaflet to
raise awareness of
dystonia. The motion
was carried overwhelmingly and
over 425,000 Usdaw
members will be able
to access the leaflet.
Great work Val!
8
Fundraising Preview
We’ve added to our list of merchandise
and now have some bright, stylish new
travel card holders for you to purchase!
Seaside run
Vicky Driver will
be running for the
Society in Torbay’s
Half Marathon this
summer. She is
taking part because
her sister has
dystonia. We hope
you enjoy it Vicky!
Since the feature
on our summer
golf events in the
last issue, we have
had many more
people interested
in holding golf
fundraisers. Riley
South and Steve
Prime held a
tournament in
May and there are
more coming up
this summer. Look
out for the golfing
events feature in
the Autumn issue!
9
✩
Teeing off
They are great for bus the go! If you would
passes, rail cards and
like to order one, you
oyster cards – even for can visit our website:
keeping business cards www.dystonia.org.uk
to hand. Also great for or else fill in the order
raising awareness on
form on the back page.
❖❖❖❖❖❖❖❖❖❖❖❖❖❖❖❖❖❖❖❖❖❖❖❖❖
A Canadian hero six years ago and has
so far raised over £500.
In October Andrew
Good luck with your
Boggs will be running
half marathon Andrew!
the Royal Parks Half
Marathon for the
Society. He has already
taken part in the BUPA
London 10,000 in May
with his girlfriend Liz
Bell, right, and flew
round the course in
only 48 minutes.
Originally from Canada,
Andrew was diagnosed
with cervical dystonia
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Best of British
taking part because
Ladan Mirzadeh and
Ladan’s sister Ellie has
her friend Marvin are
dystonia. This will be
running the British 10K Ladan’s third time
next July in London for running a 10K. Good
the Society. They are
luck to both of you!
Dystonia
takes Berlin!
5k in the Park
Why not come and
join Team Dystonia
for a 5K run in Crystal
Palace Park later on
this year, on Sunday
13 October? This is a
really fun event and
a great opportunity
for everyone to get
together. You have
the choice to run,
walk or stroll and if
you sign up to take
part, we will send
you a fundraising
pack and a T-shirt.
If you would like
more information on
this event, please call
the fundraising team
on 0845 8031004.
You can also sign up
through our website.
We look forward to
hearing from you!
Trekking for Katie trek Hadrian’s Wall,
Ian Rutherford, right,
is making 2013 his
year of treks for the
Society, inspired by
his daughter Katie
who has dystonia.
His challenges have
already taken him to
Barbados and Mount
Machu Picchu and he
will be heading off to
★
Kilimanjaro and
Everest later
in the year.
Ian has raised
a fantastic
amount of
£3,000 so
far. We wish
him the best
of luck with
his future treks!
The Society has three
places for the Berlin
Marathon in 2014.
If you would like to
snap one of them up
or you know someone else that would,
this really exciting
event takes place
in September.
The route takes
the runners on a
tour of the city’s
greatest landmarks,
including Potsdamer
Platz, the Reichstag
and the Brandenburg
Gate. It's a flat, fast
course, great
for marathon
newcomers,
as well as
experienced
runners who
are looking
to beat their
best times.
10
★
Moira’s 4th
marathon
Congratulations
to Moira Pidgeon
for her success in
securing her ballot
place and for the
great achievement
of running her 4th
London Marathon
for the Society.
With the support of
her very generous
friends and family,
she raised £1436,
an amazing result.
We were also very
lucky to have her
husband Warner
and daughter
Rebekah join us at
the support area.
Bupa London
10K news...
The London Marathon took place on Sunday
21 April. The Society had seven runners this
year and they certainly did us proud!
Success for Vicky
Macquarie magic
Three runners from
Macquarie have raised
a wonderful £13,362!
Thank you to Matt
Lyons and Simon
Hempel, who
travelled to London
from Hong Kong to
take part in the
prestigious event, and
to Elliott Thomasson
from London. Elliott,
above, also ran for the
Society in the 2012
event. Our grateful
thanks also goes to
the Macquarie Group
Foundation for their
match funding.
✩
Vicky Jennings, below,
was also successful
with a ballot place for
2013 and the Society
has been very lucky
to benefit from her
fundraising skills!
Vicky also organised
events such as bag
packing and a disco
raising an amazing
£1038! She is now
considering an
overseas challenge in
2014 to raise further
funds for the Society
so watch this space!
For information on fundraising events in
your area, please email Ann Dedman: ann
@dystonia.org.uk or call: 0845 803 1004
a lifetime but we’ve
Grand Challenge every faith in them.
Megan Davies and Jim The G2G event starts
Steele have completed on 22 September and
their London Marathon the Society has two
but have no time to
competitors. The full
rest on their laurels as quota per country
their training is now
is ten places and
harder than ever. They competitors are from
are preparing for the
20 countries overall.
Grand 2 Grand Ultra
If you would like
event which is 268 km to support Megan
in intense Arizona heat. and Jim, you can see
As you can imagine,
their pages on www.
not everyone manages justgiving.com or
to complete such an
send your donation
amazing challenge of
to the UK office.
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Jump for Joyce
Joyce Leatherbarrow
organised a three hour
aerobic marathon on
19 May in St Thomas’s
Primary School in
Leigh, Lancashire. Her
fellow participants
included school staff,
gym members, family
and friends and they
all said they could
hardly move after!
They raised £1,000
for the Society and
the British Heart
Foundation. Joyce’s
sister has dystonia
and her husband has
a heart condition, so
these two charities
are important to her.
22 Society runners
took to the streets
of London on 27 May
for the BUPA London
10k. We had one
of our biggest ever
teams and would
like to thank them
all for taking part.
This was Sarah
Gifford’s second
year of running for
the Society as her
son Jack has
dystonia. This year
she organised a
team of ten runners
which raised a lot
of awareness on the
day. Chris Yarrington
who was, until
recently, Society
Trust Fundraiser, also
ran the 10k for us
for the second time,
however this year
he didn’t dress as
Scooby Doo!
★
11
Fundraising Review
12
Running in
style!
Phil Taylor,
right, ran
his 4th
Brighton
Marathon for the
Society on 14 April
this year. Phil is an
exceptional Society
fundraiser who will
also be running in
the Washington
Marathon in October.
Phil raised a lot
of awareness in
Brighton with his
green mohican hair.
He also has a tattoo
of himself running
on his calf muscle,
in a dystonia green
t-shirt of course!
Watch this space
for more feedback...
13
In memory of Ellie
The day started with a chilly breeze
and some soft rain which was perfect
for those running over 26 miles...
Ellie Gordon who died
in February. Donna
made a fantastic time
of 4 hours, 34 minutes
although this was half
an hour slower than
As the runners were
she was hoping for
heading for the halfas she had a problem
way mark, the sun
with her hip after
came out and it
fighting a cold.
proceeded to get
Although she was
hotter and hotter.
not completely happy
Nice for the spectators with her time, Donna
and those who wanted was very happy to have
to sit on the beach,
raised over £600 for
but for over 9000
the Dystonia Society
road runners it was
in memory of a very
a different story!
special little girl,
Donna Byrne ran
which was her main
her Brighton Marathon priority! Thank you
in memory of little
very much Donna.
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Bouncy castle day Suzanne made sure
Thank you to Suzanne
Thornton, left, who
organised a ‘Bouncy
Castle’ fundraising
event at Whitefriars
Shopping Centre in
Canterbury.
she distributed lots of
dystonia posters and
leaflets whilst children
enjoyed the fun. £222
was raised on the day.
Thank you Suzanne
for all your hard work!
★
Fundraising
Rebecca Moller, who
is pictured here with
her mum, is a keen
advocate for the
Society and a very
committed fundraiser.
During Awareness
Week she organised a
Tea Party which raised
over £500, plus herself
and a friend from
America arranged
an event entitled
Go Blue for Dystonia.
Rebecca
dyed her
hair blue
and wore blue clothes
throughout the week,
and this raised £230
in sponsorship. A
shop collection raised
a further £39. The
grand total along
with gift aid was
£852. Rebecca’s
fundraising for 2014
will be in support
of her cousin David
Ray and Anne Palmer
who is running the
chose gifts in lieu at
London Marathon
their Golden Wedding
for the Dystonia
recently and £269 was
Society next year.
generously donated!
★
Time for tea
Madeleine Townsend
organised three tea
parties with help from
her family, friends and
neighbours. As her
energy levels are quite
low, her personal care
assistant helped her
to prepare for the
events, which raised
an incredible £1209!
Madeleine was over
the moon with the
level of response,
kindness, support
and generosity she
received each time.
Local businesses
supported the events
by supplying raffle
prizes, including café
and beauty therapy
vouchers, wine, hand
made soaps and
chocolates. A great
achievement thank
you very much!
✩
Oddfellows
support
Pam Magee, above,
has been fundraising
throughout her year
as Provincial Grand
Master of the Oddfellows Flower of
Kent Lodge. Pam
wanted to support
the Society because
her husband Colin
received good help
and advice from
our Helpline service.
Pam persuaded her
friends and family
into giving their
support through
varied and innovative
events including
dances, tea parties
and gifts in lieu
of Christmas cards.
The fantastic total
raised was just over
£5014 and this was
presented to Ann
Dedman on 11 May.
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New Medical Adviser:
Dr Marie-Helene Marion
The Society is delighted to have
a new medical adviser, Dr MarieHelene Marion, who will work
alongside our existing advisers,
Professor Tom Warner and Dr
Mark Edwards. Regular readers
of our newsletters will know
that Dr Marion has worked
closely with us for many years
and regularly contributes
articles from her blog.
Dr Marion is a French neurologist
and one of the leading experts in
the provision of botulinum toxin
injections. She trained during the
eighties under the late Professor
David Marsden who played a
central role in establishing the
diagnosis of dystonia as it is
understood today as well as
inspiring the foundation of the
Dystonia Society. Subsequently,
Dr Marion was the pioneer in
France of the use of botulinum
toxin to treat focal dystonia.
She currently practises in London
and Surrey and has been the
driving force behind the
establishment of the British
Neurological Network (BNN),
a national network of toxin
injectors, that she chairs. The
BNN is a vital partner of the
Dystonia Society in our mission
to establish the best possible
treatment for patients in the UK.
She says that her “experience
over the years has taught me
that despite the complexity and
the therapeutic challenges, there
is always place for hope and that
a small improvement can have a
big impact on the quality of life
of the patient.”
“Experience has taught
me there is always
place for hope.”
15
www.dystonia.org.uk
How the internet can assist
the diagnosis process
A few weeks ago we asked
through our e-newsletter and
Facebook pages for stories
of people who’d used the
internet as part of their
diagnosis process. We were
amazed by the response with
more than 80 people replying.
In around half the stories,
people had to find out about
dystonia on their own through
online searching as they hadn’t
got the answers they needed
from their doctors.
site through symptom searches.
So far, more than 40% of those
coming to us who learned about
dystonia in 2013 did so through
an online search. This is up from
less than 10% a few years ago.
However, it is important to
remember that only specialist
medical consultants can diagnose
dystonia – the internet can
suggest possible answers and
speed up the process but only
doctors can confirm the diagnosis.
Here is a typical story:
There were numerous stories
of the extraordinary difficulties
faced in the diagnosis process.
One person had seen three
neurologists without getting a
diagnosis, others were bedbound
or had their eyes clamped shut
due to dystonia and yet still had
to find the explanation of their
condition online.
On the positive side, it is clear
that the internet is making a
real difference to the diagnosis
process. We now have 125,000
people per year coming to our
“I searched ‘muscle spasm’ in
Google and reached the Dystonia
Society website. Using the
website information, I discussed
dystonia with my GP and as a
result of the information, I got
a referral to a neurologist.
The GP was previously
completely unaware of dystonia
and had dismissed the symptoms
as relating to ME. Three monthly
botulinum toxin injections have
significantly reduced pain,
disorientation and reliance on
pain medication. I was previously
Helpline: 0845 458 6322
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How the internet can assist
the diagnosis process (continued)
bedbound, but botulinum toxin
has improved my quality of life,
although I’m still housebound.
The Helpline was extremely
helpful and encouraged me to
go back to GP with information
regarding Cervical Dystonia
and Spasmodic Dysphonia.
You gave me the confidence
to ask for referral with a
view to possible treatment.”
Even when people with dystonia
get the information they need
online, it can sometimes be a
struggle to get diagnosed and
requires determination as this
story shows:
“To find out what was causing
my symptoms I searched ‘head
turning right’ – and that way
discovered that these symptoms
may be caused by dystonia.
This gave me some helpful
information to take back to
my GP. Initially, my GP wasn't
interested in referring me to
a neurologist. I insisted and
said I would go private so he
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www.dystonia.org.uk
referred me to an orthopaedic
consultant(!) who took one
look at me and referred me to
a neurologist. They diagnosed
neck dystonia and speeded up
the process of getting treatment
which has been very helpful.
I also linked to other Dystonia
Society services which were
very helpful and reassuring,
especially in the early days
before I started treatment.
I do quite well with my three
monthly botulinum injections,
so much so that I'm able to
work again. I do occasional
consultancy which involves
travel etc. Without the injections
I would be lying flat in bed most
of the time, so it's ‘given me my
life back’.”
Sometimes there can be
misunderstandings between
the doctor and patient. In these
situations, it is important that
there is a reliable source of
information online as this story
illustrates:
“My doctor told me that I
needed to see a neurologist
quickly as he suspected there
was something wrong with my
brain. Even though the doctor
was correct that I needed to
see a neurologist, his bedside
manner was atrocious, and he
should have explained what was
happening, rather than scaring
the living daylights out of me.
I came out of that appointment
thinking I had a brain tumour
and broke down in my car in a
complete panic. My husband
was the one who did the Google
search after this incident occurred.
He searched ‘involuntary twisting
of the head’ and this took him
to the Dystonia Society website.
When I read the symptoms I
just broke down with relief that
the symptoms I had appeared to
match with dystonia, rather than
a brain tumour. I went to see a
neurologist, and he diagnosed
me with spasmodic torticollis
(neck dystonia) within ten
minutes of being in his office.
GP's are still ignorant of
dystonia. Even though it is a little
known disorder, the symptoms
are distinct and recognisable
and a doctor should be able
to diagnose this and refer
immediately to a neurologist.
I had previously had six months
of pointless doctor appointments
and a referral to a physiotherapist. One doctor even
instructed my husband to hit
me whenever my head turned
to try and stop the turning
from occurring!”
Helpline: 0845 458 6322
18
Dystonia and the
basal ganglia
This article discusses a part
of the brain called the basal
ganglia and the role it is
thought to play in dystonia.
The exact cause of dystonia
is unknown and there are a
number of theories about how
dystonia arises – below we
discuss one of them. There
are other theories – some of
which will be discussed in
a forthcoming article. How
these theories fit together and
which will turn out to be most
important remains to be seen.
What are the basal ganglia?
The basal ganglia are clusters of
nerve cells deep in the brain
which are tightly interconnected.
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They are involved in selecting
muscles for movement. This
article focuses on the theory
that dystonia is caused by a
failure of the basal ganglia to
trigger the right balance of
muscle selection.
How does the brain normally
initiate movement?
The part of the brain that
initiates a movement is called
the pre-frontal cortex. The
cortex is the outermost layer
of the brain and, as its name
suggests, the pre-frontal cortex
is the part of the cortex located
at the front of the brain. The
pre-frontal cortex sends messages
to the motor cortex, which
generates impulses involved
in the planning, control,
and execution of voluntary
movements. To refine the choice
of muscles which participate
in the movement the motor
cortex sends messages through
the basal ganglia.
For a movement to be executed
smoothly and successfully, the
muscles that cause the movement
(known as the agonist muscles)
need to contract while, at the
same time, the muscles that
oppose or interfere with the
movement (known as the
antagonist muscles) need to
relax. For example, when the head
is turned to the left, the muscles
that rotate the head to the left
(the agonists) contract, while
those that rotate the head to
the right (the antagonists) relax.
The quantity of activity in the
motor cortex is adjusted using
two distinct pathways – the
direct pathway and the indirect
pathway. Both pathways run
from the cortex through the
basal ganglia then back to the
motor cortex via the thalamus
but they have opposite effects:
●
The direct pathway causes
the thalamus to send excitatory
signals back to the motor cortex
and so increases activity. The
muscles controlled by the parts
of the motor cortex receiving
signals from the direct pathway
become more active, causing
the muscles to contract, thereby,
reinforcing the desired
movement.
●
The role of the basal ganglia is
to amplify activity in the areas
of the motor cortex that control
the agonist muscles (this is called
excitation) while simultaneously
silencing the areas that control
the antagonist muscles (this is
called inhibition).
The indirect pathway causes
the thalamus to send inhibitory
signals to the motor cortex
and so suppresses activity. The
muscles controlled by areas of the
motor cortex receiving inhibitory
signals relax, preventing muscle
action that would interfere with
the movement.
A part of the basal ganglia called
the striatum is responsible for
selecting which pathway is used.
Helpline: 0845 458 6322
20
Dystonia and the
basal ganglia (continued)
It receives input from the cortex
that indicates the required
movement and converts this into
signals that trigger the direct
pathway for the areas of the
motor cortex that need to be
excited and the indirect pathway
for areas that need to be
inhibited.
Depending on which pathway
is triggered, the signals then
pass through a number of other
nerve clusters in the basal
ganglia (one of which is the
globus pallidus) with the result
that either basal ganglia releases
the thalamus to trigger the
muscle contraction (in the direct
pathway) or prevents it from
doing so (in the indirect
pathway).
Signals are passed between
the different areas of basal
ganglia using neurotransmitters
– chemical messengers that pass
information between neurons,
which either excite or inhibit
activity. Two examples are GABA
which passes messages inhibiting
21
www.dystonia.org.uk
activity and glutamate which
passes excitatory messages.
The basal ganglia and dystonia
Usually, when a movement is
made, excitation and inhibition
work in harmony so contraction
of the agonist muscles is
coordinated with relaxation
of the antagonist muscles. In
patients with dystonia there
is deficient inhibition of the
antagonist muscles. This can
result in co-contraction, where
the agonist and antagonist
muscles contract together.
Research has identified that
the major role of the basal
ganglia is to balance excitation
and inhibition (just like a pair
of scales). However, in dystonia
this delicate balance is not
attained. It is not yet certain
whether the problem is with
the direct pathway, the indirect
pathway or both. However, as
dystonia appears to result from
insufficient inhibition in the
muscles, it may be that the
indirect pathway is failing,
resulting in impaired suppression
of muscle activity. The lack of
inhibition of antagonist or
surrounding muscles ultimately
causes the co-contraction or
overflow phenomena seen in
dystonia.
One area of focus has been
to look at whether dystonia is
caused by a shortage of the
inhibitory neurotransmitter
GABA. It seems plausible that
a shortage of an inhibitory
neurotransmitter such as GABA
may play a role, since dystonia
seems to be a failure of
inhibition. At present this is a
theory that remains unproven;
however, one of the treatments
for dystonia, which helps in some
cases, is to prescribe medications
that increase the quantity of
GABA such as benzodiazepines,
gabapentin or baclofen.
Where does DBS fit in with
all this?
Deep Brain Stimulation (DBS) is
a surgical procedure in which
fine electrodes are inserted into
the brain. They are connected
to a power source implanted in
the chest.
An area often targeted by the
electrode in DBS is the internal
Globus Pallidus (GPi) area of the
basal ganglia, which primarily
has an inhibitory action,
therefore decreasing muscular
activity. The electrode delivers a
constant, painless, signal which
aims to block the signals that
cause the disabling symptoms
of dystonia.
Findings suggest that
modulating the activity of the
basal ganglia and in particular
the GPi may normalise levels
of inhibition, allowing for the
gradual replacement of abnormal
activity with more normal
physiological patterns of activity.
Cortex images (which have been
slightly modified) provided by
www.scienceblog.com
Helpline: 0845 458 6322
22
When botulinum toxin
injections don’t work
Botulinum toxin injections are
used to treat many kinds of
focal dystonia and are also
sometimes part of a treatment
regime for more generalised
dystonia. They are an effective
treatment and provide
significant relief for the
majority. However, around
a third of patients report
receiving limited relief. This
can be a distressing experience.
injector detail what has improved
and not improved in your daily
life since the last injections.
People are sometimes frightened
that treatment will be withdrawn
if they express their concerns
– but, as explained below, there
are a number of steps that may
help to improve the situation.
These can only be put in place
if you and your injector jointly
agree how to progress.
People do sometimes become
immune to the toxin but this
is quite unusual (only a few
percent of all those being
injected) so for the majority
of people where the injections
are not working well there is
another explanation.
If you have recently started
having injections
When injections are started, it
can take a few injection cycles
for them to become effective.
There are a couple of reasons
for this.
Firstly, dystonia can involve a
number of different muscles and
it may take more than one trial
by the injector to establish the
right muscles to be injected.
Secondly, injectors usually start
with low dosages of toxin to
minimise the risk of side effects
(such as swallowing difficulties
Discussing with the injector
If injections are not working
well, it is important to
document precisely the effect
of the injections (percentage
of improvement, duration of
benefit, side effects) and then
in an open discussion with your
23
www.dystonia.org.uk
or droopy eyelid). Once they
have established that a patient
can tolerate higher dosages,
they can inject more toxin and
so the injections may become
more effective. It may be
necessary to try at least 2 or 3
cycles of injections (which can
take in total around a year) to
establish how effective the toxin
treatment can be.
If the injections lose their
effectiveness
The severity of dystonia fluctuates.
One possibility is that it has
recently worsened, following
a stressful event. This may be
worthwhile to discuss with your
injector. Sometimes also the
injections lose effectiveness and
different strategies can be used to
optimise the treatment as follows:
1. The injector may review which
muscles are being injected
and also increase the dosage
of toxin – although there is a
maximum amount of toxin
that can be injected on any
one occasion because of the
risk of side effects.
2. The injector can also try a
different toxin brand – there
are 3 brands of type ‘A’ toxin
(Botox, Dysport and Xeomin)
and one brand of type ‘B’
toxin (Neurobloc). In general,
there is no reason that any
of these will be more or less
effective than any other but
some people find that
switching to a different toxin
can help if their current toxin
stops working.
3. If the muscles being injected
are deep below the skin, such
as some neck muscles, then
the injector may guide the
injection by using an electromyographic (EMG) or ultrasound machine which help
locate the dystonic muscle.
4. If none of the above has
worked, then the injector can
check if the patient is immune
Helpline: 0845 458 6322
24
When botulinum toxin
injections don’t work (continued)
using a Frontalis test – where
small amounts of toxin are
injected into the forehead.
You should not conclude you
are immune to the toxin until
this test has been done. If
the test is positive (no visible
effect of the injection), the
patient may try a period (from
6 months to 2 years) without
toxin. Sometimes, this causes
the immunity to disappear –
but unfortunately in other
cases the immunity can be
permanent.
5. Finally if nothing has worked
and the Frontalis test shows
there is no immunity, it may
be necessary to get a second
opinion.
Providing injections is a complex
process and no injector can get
it exactly right for every patient.
You do not automatically have
the right to a second opinion,
but most medical professionals
will accept that if the injections
do not seem to work and there
25
www.dystonia.org.uk
is no explanation why the
treatment isn’t working then it
is worth asking another medical
professional to review the case.
Other treatment and support
If a way cannot be found to
make the injections work, there
are a number of other
approaches that can be tried.
1. A number of medications
are used to treat dystonia.
Medication is not for
everyone as taking medicine
to treat dystonia requires
patience and persistence
and there can be side effects.
The medicines only work for
some people and are more
likely to be successful in
children and young adults
than in the elderly. However,
some people can gain relief
so it may be worth discussing
medication with your
consultant if the botulinum
toxin isn’t working.
2. Many people with neck,
hand or generalised dystonia
If you would like a copy
of this article as a leaflet,
please contact UK office.
benefit from physiotherapy.
Because of the specialised
nature of the movements in
dystonia, this treatment needs
to be provided by a specialist
neuro-physiotherapist who
has a knowledge of the
condition. Physiotherapy can
only be successful if there is a
commitment by the patient to
do the regular exercises prescribed by the physiotherapist.
3. Some types of dystonia are
associated with high levels
of pain. In these cases, pain
management programmes
can often be helpful. These
programmes give guidance
on coping via emotional and
physical techniques that can
help manage pain.
4. Dystonia is also associated
with higher levels of stress,
anxiety and depression for
some people – if this is the
case psychological support
such as counselling and
cognitive behavioural therapy
can be helpful.
5. The treatment of last resort
for dystonia is deep brain
stimulation (DBS). This is
usually only provided for
severe cases of generalised
dystonia, neck dystonia or
dystonic tremor and is more
effective for primary
dystonias. DBS is a surgical
procedure in which two fine
electrodes are inserted into
the brain. They are connected
to a subcutaneous power
source which delivers a
constant, painless, signal
which blocks the signals that
cause the disabling symptoms
of dystonia. A number of
other surgical treatments
(such as periperal denervation)
are also sometimes used.
Helpline: 0845 458 6322
26
Dystonia Society Group meetings
GROUP
CONTACT
TEL NO.
ENGLAND: South of England, Midlands, North of England
1 Cornwall
Judith Pykett
0845 899 7104
● 19 Oct, 1.30 for 2pm, meeting, Trelander & St Clements Hall, Truro
2 Plymouth
Michelle Clemes
● 14 Sept, 11am, meeting at Elburton Village Hall
0845 899 7108
3 Torbay & Exeter
Debbie Skerrett
● 13 July ● 10 August ● 14 Sept ● 12 Oct, 1 – 3pm,
meeting at Paignton library, Paignton
0845 899 7105
6 Bristol, Glos & Somerset
0845 899 7113
Maggie Atkinson
11 Oxford
Lorraine Jackson
0845 899 7134
● 14 Sept, 2 – 5pm, meeting Level 3 Conf. room, John Radcliffe Hosp.
12 Berkshire
Carol Powell
0845 899 7148
16 East Hampshire
Peter Cole
0845 899 7120
17 West Sussex
Graham Ashdown
0845 899 7138
● 28 Sept, 2.30pm, meeting at the Chapel of Worthing Hospital
Paul King, CEO will be in attendance
18 East Sussex
Kay Frost
● 12 Oct, meeting, please ring for more details
0845 899 7149
19 Kent
Dave Ward
0845 899 7122
● 5 Oct, meeting in Orpington, please ring for more details
23 London, London SW
Ian Boddington (L & LSW) 0845 899 7127
& Surrey
Linda Barns (S)
0845 899 7136
● 17 Aug, 12pm, Visit to Kew Gardens
23 London SE
Bridget Davis
0845 899 7129
● 21 Sept, 10.30am – 12.30pm, meeting at the Salvation Army
Lounge, 58 Westow Street, Upper Norwood
26 Essex
Molly Perry
0845 899 7117
● 26 Sept, 10.30 –12.30pm, meeting, Rayleigh Elim Church, 23 Castle Rd
Helpline: 0845 458 6322
28
GROUP
CONTACT
TEL NO.
27 Hertfordshire
Sue Smith
0845 899 7121
● 13 July, 1.30pm, Post Grad. Centre, QEII Hospital, Welwyn Garden City
28 Cambridge
Bettina Starke
0845 899 7106
● 21 Sept, 10.30am – 1pm, ATC3 Seminar Room, Addenbrooke's Hosp.
29 Norfolk & Suffolk
Mary Fagg
31 West Midlands
Anne Tingle
● 28 July, BBQ in Tamworth, time tbc
GROUP
CONTACT
TEL NO.
Graham Findlay
0845 899 7110
WALES
71 South Wales
0845 899 7133
75 North Wales & Shropshire Moira Gleed
0845 899 1060
● 20 July, Craig y Don Sports Centre, Queens Rd, Llandudno ● 27 July,
St Martin's Centre, Overton Road, Shropshire, meetings both 2 – 4pm
0845 899 7137
NORTHERN IRELAND
76 Northern Ireland
31 Worcestershire
Frances & Don Pitt
0845 899 7139
● 28 Aug ● 30 Oct, 10.30 – 12pm, meetings at Stourport Manor Hotel
Neil & Barbara Stacey
0845 899 7100
CONDITION SPECIFIC / VIRTUAL Support Groups
41 Mansfld, Chesterfld, Wksop Richard Cantrill
0845 899 7132
81 Voice Group
● UK wide virtual group
Lianne Morgan
facebook.com /groups /voicedystonia
42 Lincolnshire
Anne Alderton
0845 899 7150
82 Northern Blepharospasm
Jane Hewertson
51 Manchester
Chris Smith
0845 899 7131
52 South Yorkshire
Keith Hall
0845 899 7143
83 Younger Adults Group
Jessica Horton & Nicholas Calder-Bundy
● Virtual (for over 18’s) facebook.com / groups / youngeradultsdystonia
53 Hull & East Riding
Thelma Bayram
0845 899 7140
AFFILIATED Support Groups – not part of the Dystonia Society
56 Liverpool & Merseyside
Margie Hughes
0845 899 7126
91 Bournemouth
Eye Hospital
Lynn Preston [email protected]
Una Rennard
0845 458 6334
92 Blepharospasm Group
Cathy Palmer
57 Lancashire & Fylde
Carolann Curley
0845 899 7123
● 27 July, The Continental, Preston ● 26 Sept, Fairhaven Lake Cafe, Lyth.
St Annes ● 31 Oct, Hilton Hotel, Blackpool, each 2 – 4pm, Drink & Chat
0845 899 7101
01903 725 448
0845 899 7115
93 Dorset & Somerset Borders Liz McFadyen
01963 371 102
Neurological Supp. Group [email protected]
● 9 July, meeting at the Stags Head, Yarlington. Booking is essential
61 Airdrie
Alison Reynolds
0845 899 7142
● 17 July, 11 – 1pm, then every other Wed, Weavers Cottage, Wellwund
96 Easington Support Group Tom & Joan Donkin
01915 816 820
● 12 July ● 9 Aug ● 13 Sept ● 13 Oct, 11.30am – 1.30pm,
meetings at the Crows Nest pub, East Shore Village, Seaham
58 Furness & South Lakes
Harry & Gill Jepson
SCOTLAND
62 Glasgow
Dorothy Chisholm
0845 803 1006
63 Perth & Dundee
June Paladini
0845 899 7145
64 Aberdeen
Diane Dunn
0845 899 7141
● Meetings every 3rd Monday of the month at the Cocket Hat Pub
65 Inverness
Dorothy Chisholm
0845 899 7109
66 Edinburgh
Dorothy Chisholm
0845 803 1006
29
www.dystonia.org.uk
97 A.D.D.E.R.
actionfordystonia.co.uk 01914 777700
General Information All Support Groups are run and operated by volunteers.
We are extremely grateful for the time and energy they give and without their
hard work, we would not be able to offer this level of local support. Please bear
this in mind when contacting a group contact. Any general enquiries / comments
about groups should be referred to Una Rennard, Group Support and Development:
0845 458 6334 / email: [email protected]. Where an 0845 number is given
these numbers are charged at a local call rate from landlines. Mobile phone users
may be charged more. Please ring ahead if this is your first time attending.
30
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