Winter 2008 - Dystonia Medical Research Foundation

MAGAZINE OF THE DYSTONIA MEDICAL RESEARCH FOUNDATION | WINTER 2008 | VOL. 31 • NO. 3
“Stanley
8 Meet
Fahn Award”
Recipient William
Dauer, MD
15
Internet
Connections
For The Dystonia
Community
19
FAQ About
Social Security
Disability
Benefits
inside this issue
8
The Currency Of Curiosity
Meet “Stanley Fahn Award” recipient William Dauer, MD
11 Candid Kids
Meet Jake, Jana, and Megan
15 The Web We Weave
Internet connections for the dystonia community
19 FAQ About Social Security Disability Benefits
Learn about SSDI and SSI
20 Dystonia, Tremors, & Parkinsonism
What is the relationship between these symptoms?
The Dystonia Dialogue is the magazine of
the Dystonia Medical Research Foundation
(DMRF). It is published three times a year to
provide information to individuals affected by
dystonia, family members, and supporters of
the DMRF.
The Dystonia Medical Research Foundation
(DMRF) is a non-profit, 501c(3) organization
founded in 1976. The mission is to advance
research for more effective treatments and
a cure, to promote awareness and education,
and to support the well being of affected
individuals and families.
Dystonia Medical Research Foundation
One East Wacker Drive • Suite 2810
Chicago, Illinois 60601-1905
Phone 312 755 0198
In Canada 800 361 8061
Fax 312 803 0138
Email [email protected]
Web www.dystonia-foundation.org
What Is Dystonia?
Canadian donations may be sent to:
Dystonia Medical Research
Foundation Canada
8 King Street • Suite 106
Toronto, Ontario Canada M5C 1B5
Dystonia is a disorder that affects the nervous system. Improper
signaling from the brain causes muscles to contract and twist involuntarily.
Dystonia can affect a single body area or multiple muscle groups. There
are several forms of dystonia, and dozens of diseases and conditions
include dystonia as a significant symptom. For more information visit:
www.dystonia-foundation.org
The Dystonia Dialogue reports on
developments in dystonia research and
treatments but does not endorse or
recommend any of the therapeutics
discussed. Individuals are urged to consult a
physician with questions and concerns about
their symptoms and care.
On The Cover:
From left to right: Stanley Fahn, MD, Mahlon R. DeLong, MD, John H. Menkes,
MD, and Charles H. Markham, MD are among the most influential figures in
dystonia research. Dr. DeLong serves as the DMRF’s Scientific Director. He
was preceded by Dr. Markham and founding
Scientific Director Dr. Menkes.
Dr. Fahn founded and directed the first
Dystonia Clinical Research Center in
the United States. The DMRF’s most
prestigious grant, the Stanley Fahn
Award, is named in his honor. Read
about the results of the first Stanley
Fahn Award investigation on page 8.
Staff
Janet Hieshetter
Executive Director
Kathleen Behner
Director of Operations
Ray Chaudhuri, PhD
Director of Strategic Alliances
Jessica Feeley
Editor and Special Projects
Julie Mack
Administrative Coordinator
Emma Pinto
Development Coordinator
Tammy Reed
Senior Associate Director of Development
Jody Roosevelt
Science and Technology Manager
Beverly Saiz
Chicago Regional Director
Jan Teller, MA, PhD
Science Officer
Germaine J. Mulhern, CPA
Financial Consultant
Printed in the USA.
© Dystonia Medical Research Foundation
DYSTONIA DIALOGUE
3
INSIDE DMRF
Foundation Update
CLAIRE CENTRELLA
At a DMRF meeting in Melbourne, Florida, a woman realized she is not alone. On the
DMRF MySpace page, a young man found someone his age who shares his diagnosis.
A DMRF volunteer in Washington discovered that by fundraising for research and
consoling others she feels more at ease in her new life with dystonia.
PRESIDENT
The DMRF’s ability to help people through examples like these is possible because of you.
The support of our partners and members is essential to the DMRF’s ability to serve the
dystonia community and benefit lives.
We are living in interesting times. The economy, changes in national leadership, and
events around the world have immersed us in a period of marked change. For many,
it is a very stressful time.
JANET HIESHETTER
EXECUTIVE DIRECTOR
There is one thing you can count on: the DMRF does not waver in its commitment to you.
We remain loyal to our mission to advance research, promote awareness and education, and
provide support to affected individuals and families. We understand that those of you living
with dystonia have unique needs, and we further understand that the changes we’re seeing
all around us may be impacting your lives. We realize that some of our donors are not in a
position to contribute at past levels. We appreciate your support at any level, because it is
an expression of your commitment to the mission. To those of you who remain able to give,
your support is needed now more than ever.
Not one of you reading this message is alone. We invite each of you to take advantage of the
camaraderie to be found though the DMRF and dystonia community. If you need support,
reach out to us. If you can offer support to others, partner with us to connect with those in need.
In this issue of the Dystonia Dialogue, you’ll experience the ways the DMRF is exercising our
commitment. You’ll read about others who join you in this battle. The dystonia community
is strong, and together we will achieve our mission.
On behalf of the Board and staff of the DMRF, we wish you and your family wellness and
peace of mind during the holiday season and beyond. Thanks to all our members for your
continued partnership.
Claire Centrella
President
Janet Hieshetter
Executive Director
WINTER 2008
4
Dystonia Medical Research Foundation
Lifetime Honorary Directors
Stanley Fahn, MD
Charles H. Markham, MD
John H. Menkes, MD
Martin B. Sloate
Board Of Directors
Samuel Belzberg
Chairman/Founder
Claire A. Centrella
President
Lee Shulman
Vice President of Development
Rosalie Lewis
Vice President of Public Policy
Barbara Kessler
Vice President of Awareness
& Activities
Karen K. Ross, PhD
Vice President of Support
Mark Rudolph
Treasurer
Art Kessler
Executive Board Consultant
Sandra Weil
Network Liaison
Directors
Frances Belzberg
Co-founder
Marilynne Herbert
Dennis Kessler
Deborah Kilpatrick, PhD
Richard A. Lewis, MD
Diane Rudolph
Greet Ruelens
Jeffrey Sherrin, Esq.
Bonnie Strauss
John Symonds
Lieve Van Gorp
Mahlon R. DeLong, MD
Scientific Director, ex officio
Janet Hieshetter
Executive Director, ex officio
Medical & Scientific
Advisory Council
Mahlon R. DeLong, MD
Scientific Director,
Emory University
School of Medicine
Ron Alterman, MD
Mount Sinai Medical Center
Michele Basso, PhD
University of Wisconsin
Anne Blood, PhD
Massachusetts General Hospital
Jeffrey Brodsky, PhD
University of Pittsburgh
Donald Cleveland, PhD
University of California,
San Diego
P. Jeffrey Conn, PhD
Vanderbilt University
Susan Fox, MRCP, PhD
Toronto Western Hospital
Pedro Gonzalez-Alegre, MD
University of Iowa
Joseph Jankovic, MD
Baylor College of Medicine
Bruce Jenkins, PhD
Massachusetts General Hospital
H.A. Jinnah, MD, PhD
Johns Hopkins University
Christine Klein, MD
University of Luebeck
Mark LeDoux, MD, PhD
University of Tennessee Health
Science Center
Michael Okun, MD
University of Florida
Laurie Ozelius, PhD
Mount Sinai School of Medicine
Joel Perlmutter, MD
Washington University
Bernard Ravina, MD
University of Rochester
Andrew Singleton, PhD
National Institute on Aging
D. James Surmeier, PhD
Northwestern University
Philip Thomas, PhD
University of Texas Southwestern
Medical Center
Thomas Wichmann, MD
Emory University School
of Medicine
David Yue, MD, PhD
Johns Hopkins University
Cynthia Comella, MD, ex officio
Rush University Medical Center,
Dystonia Study Group
Ted Dawson, MD, PhD, ex officio
Bachmann-Strauss Dystonia &
Parkinson Foundation, Inc.
Danilo Tagle, PhD, ex officio
National Institute of Neurological
Disorders & Stroke
Cure Dystonia Initiative Advisory Council
Robi Blumenstein
MRSSI, Inc.
Xandra Breakefield, PhD
Harvard University
Cynthia Comella, MD
Rush University Medical Center,
Dystonia Study Group
P. Jeffrey Conn, PhD
Vanderbilt University
Jens Eckstein, PhD
TVM Capital
John Holaday, PhD
QRxPharma
Arthur Kessler
DMRF Board of Directors
Elias K. Michaelis, MD, PhD
University of Kansas
David Moskowitz, MD, MA
GenoMed
Christopher O’Brien, MD
NeurocrineBiosciences, Inc.
Robert Pacifici, PhD
Cure Huntington Disease
Initiative, Inc.
Edward Spack, PhD
SRI International
David Standaert, MD, PhD
University of Alabama, Birmingham
Michael Weintraub, MD
University of Rochester & formerly
FDA Office of Drug Evaluation
DYSTONIA DIALOGUE
5
DYSTONIA DIGITS
38,363
Number of
people who
received this
issue of the
Dystonia
Dialogue
1,126
Average number of visits to
DMRF website each day
11,885,285
Number of hits to DMRF
website in the last 12 months
300,000
449
Total number
of DMRF
research grants,
fellowships, and contracts
funded since the organization
was founded
80
Percent of DMRF
budget that goes
directly to
science,
awareness,
advocacy,
and support
programs
1,000
Estimate of people with
dystonia worldwide who
have undergone deep
brain stimulation surgery
4 keys
13,788
@
Number of people signed
up to receive
monthly DMRF
eNews. If you
would like to
receive DMRF
updates via email, contact
[email protected]. See page
18 to receive updates via
text message
to a successful
botulinum
toxin
injection:
• An experienced injecting
physician
• Using the appropriate dose
• Injecting into the appropriate
targets in the muscles
• Clear communication
between physician and
patient about the symptoms
to be treated and expected
results
Estimated number of people in North America affected by
dystonia based on available data. This figure is widely
acknowledged as an underestimate.
32
Number of years
that the DMRF
has been in
operation
1911
The year the word ‘dystonia’
was first coined
WINTER 2008
6
Fall Into Savings
DMRF Partners With Tyler’s Hope
DMRF Merchandise Sale
Fall is here and the DMRF is having a clearance sale.
We are pleased to offer special pricing on a variety of our
most popular merchandise at a savings of 50-75% off.
Shop our items from the comfort of your home. A complete
listing of our sale items is available at www.dystoniafoundation.org. Look for the link on the homepage.
To receive these special prices, you must place your order by
contacting Julie Mack at the DMRF by phone at 800-377DYST (3978) or email at [email protected].
Be sure to mention that you read about the sale in the
Dystonia Dialogue !
Let Your Feet Do The Talking
DMRF Clogs On Sale
You can support dystonia research and
promote awareness just by wearing
trendy, sporty shoes. DMRF clogs
are now available at the reduced
price of $20 per pair or two pair
for $35 (includes shipping
and handling).
These clogs are similar to the popular Crocs™ footwear
and are made in a durable, lightweight EVA material.
They are royal blue with an interchangeable strap that is
imprinted with “Dystonia Medical Research Foundation”
and the DMRF logo in white.
DMRF clogs are easy to slip on and off, dry quickly
when wet, are super comfortable, and are perfect for
everything from walking the dog, health club locker
rooms, or yard work. They make great holiday gifts.
Unisex sizes available:
Medium (Ladies 6-9)
Large (Men 9-12)
To order, email [email protected] or
call the national office toll-free at 800-377-DYST (3978).
Rick and Michelle Staab
with (from left to right)
Luke, Tyler (back row),
and Samantha. Tyler and
Samantha have dystonia.
The DMRF is partnering
with Tyler’s Hope For A
Dystonia Cure to advance
research on DYT1 dystonia.
Rick and Michelle Staab
founded Tyler’s Hope shortly
after their son Tyler was
diagnosed. The mission of
the organization is to cure
DYT1 dystonia, the form
that affects their family.
A generous grant from
Tyler’s Hope supported groundbreaking studies including
William Dauer, MD’s investigation on the dystonia
protein torsinA at Columbia University in New York as
well as Pedro Gonzalez-Alegre, MD’s investigation on
RNAi as a novel dystonia therapy at the University of
Iowa. Tyler’s Hope also supported a DMRF contract
with dystonia investigators Cristopher Bragg, PhD
and Xandra Breakefield, PhD to develop and screen
chemical compounds that impact the disruptive effect
of mutated torsinA in cells.
DMRF President Claire Centrella explains, “The DMRF
and Tyler’s Hope share the desire to aggressively and
strategically pursue the best research toward a cure. It’s
fantastic that we are able to work together. We’re grateful
for Rick and Michelle’s partnership.”
Effortless Holiday Fundraising
Fundraising for the DMRF has never been easier. If
you are one of the millions of people who shop online
—especially during the busy holiday season—consider
shopping through iGive.com and a percentage of each
purchase will be donated to the DMRF.
The iGive.com concept is simple. Shop at any of the 800+
popular online stores via www.iGive.com, and a percentage
of everything you buy goes to the charity of your choice.
It doesn't cost the shopper or the charity anything extra.
Look for the iGive logo at www.dystonia-foundation.org
and click to start giving. Or visit the www.iGive.com and
set up an account to name the Dystonia Medical Research
Foundation as your favorite charity. Turn shopping into a
fundraising activity!
DYSTONIA DIALOGUE
7
Get Ready!
These exciting events are planned for 2009
DMRF Joan Rabbiner Memorial Brunch is January 20, 2009 –
Boca Raton, FL
Board Member Sandy Weil hosts her annual event.
A Deep Brain Stimulation
Symposium is scheduled
for April 17-18, 2009 –
Nashville, TN
Stay tuned for more
information on this special
program organized by
members of the DBS for
Dystonia Yahoo! Group.
Dystonia Advocacy Day
is May 5-6, 2009 –
Washington, DC
Join us for two empowering
days of legislative training
and visits with legislators.
Joanna Manusov (seated) and parents
Janice and Len Nachbar are regular
participants at DMRF events including
Dystonia Advocacy Day each spring.
5th Children & Family
Dystonia Symposium is
planned for August 2009
– Chicago, IL
Stay tuned for details on this
special weekend program.
3rd Annual Washington, DC Dystonia Golf Classic Scheduled
for August 17, 2009
Donna and Tom Driscoll will host this growing fundraiser.
3rd Annual St Louis Dystonia Walk-a-thon planned for 2009
Stay tuned for news from hosts Nancy and Larry Present on
this event.
The “Return To Margaritaville” Dance & Fundraiser will take place
in the Spring of 2009 – Danvers, MA
Paula and Don Gates are planning another signature event.
For more information on these and all DMRF activities, contact us
at [email protected] or 800-377-DYST (3978).
Family You Didn’t
Know You Had
DMRF Connects People
In Midwest
The DMRF Chicago regional office is
getting to know its neighbors. Community
meetings are being held in areas throughout
the Midwest to bring together families
who have a dystonia-affected loved one
or know someone who is affected.
The purpose of these meetings is to:
• Provide an opportunity for individuals
and families with dystonia to meet
• Invite suggestions for the kinds
of DMRF programs that would be
of interest to these communities
• Offer ways for people to get involved
in advocacy and/or fundraising on a
local level
• Discuss how DMRF can serve as a
better resource for individual and families
The first meeting was held in Rockford,
Illinois in August. The audience included
both newly diagnosed and longtime
dystonia patients of all ages. As one
attendee described the event, “It’s like a
family reunion of members who didn’t
know they were related.” Participants
exchanged contact information, and a
future meeting is scheduled.
Similarly, a meeting was held in Orland
Park, Illinois in September to unite families
in the southern suburbs of Chicago.
For more information on future
community meetings in the Midwest,
contact Bev Saiz at 800-377-DYST
(3978) or [email protected]
WINTER 2008
8
RESEARCH
The Currency of Curiosity
William Dauer, MD Is Asking Questions, DMRF Is Funding Answers
To be a successful scientist, it’s not enough to have flashes of inspiration or fascinating
hypotheses. Ideas alone are not worth very much unless they are tested and explored.
An investigator must find the funding to make their projects happen.
Obtaining that very
first research grant for
one’s own work is a
very big deal for a
young scientist. For
William Dauer, MD,
his first grant came
from the Dystonia
Medical Research
Foundation (DMRF)
in 1998. It was a
Dr. Dauer is studying how
modest $35,000
torsinA affects brain cells.
fellowship award.
This data will ultimately lead
“I laugh thinking
to targets for new therapeutics.
about it now. It was
really exciting,” says Dauer. “It really made a difference.”
Under the guidance of world-renowned movement
disorder experts Stanley Fahn, MD and Susan Bressman,
MD, Dauer became interested in dystonia during his
residency and movement disorders fellowship. Drs. Fahn
and Bressman encouraged Dauer to pursue his research
ideas and apply to the DMRF for funding.
Since that first award, Dauer has emerged as a pioneer
in dystonia research and prime mover in advancing what
is known about the relationship between dystonia and
a mysterious protein called torsinA. In 2006, Dauer
received the DMRF’s most prestigious, three-year grant,
named for his mentor: The Stanley Fahn Award.
Investing In Ideas
As federal research funding at the National Institutes
of Health (NIH) continues to decline, the ability of
foundations like the DMRF to support innovative
research has never been more important. “Ideas are
great, but we can’t move forward without the funding,”
says Dauer. “And the DMRF has been there for me since
the beginning.”
The DMRF supports research that the NIH is largely
unable to fund. The NIH tends to focus on basic, relatively
conservative projects. These kinds of investigations are
necessary and valuable, but other approaches are equally
important. Dauer likens dystonia research to a financial
portfolio, “You want some stable investments—this is
what the NIH provides—but you also need to take some
risks. The DMRF allows us to be inspired, to push the
envelope, to really innovate.”
Questions & Answers
Like most scientists, Dauer’s work involves early mornings
and lots of paperwork. There are days in the clinic seeing
patients, courses to teach, and presentations to give at
conferences around the world. But most importantly,
Dr. Dauer’s job as an investigator is to ask questions,
and to ask the right questions.
In fact, when asked about the dystonia research that
is taking place in his lab at Columbia University,
Dr. Dauer starts by stating the specific questions he
and his team are trying to answer: What does torsinA do?
How does the DYT1 mutation disrupt torsinA’s ability
to function?
TorsinA represents one of the biggest mysteries in
dystonia, but one that is steadily unraveling. Scientists
have known for years that a tiny mutation in the DYT1
gene can cause the body to produce abnormal torsinA.
The mystery lies in how and why this abnormal torsinA
leads to dystonia symptoms.
One of the most pressing questions that Dauer seeks to
answer is why abnormal torsinA damages brain cells.
DYSTONIA DIALOGUE
“When you help DMRF, you help
create a forum, and that really
matters. We need the opportunity
for interaction, a chance to say
That idea is nonsense! or That
idea is really good.”
~William Dauer, MD
TorsinA is normally found in human
brain, muscle, liver, kidney, and skin
tissues, but abnormal torsinA only seems
to wreck havoc in brain cells. This begs the
question, what is it about brain cells that
makes them vulnerable to the effects of
abnormal torsinA? Why does abnormal
torsinA cause a neurological disorder?
Why not liver or kidney disease?
Understanding torsinA is important
because it provides targets for innovative
dystonia therapies that address the actual
disease process rather than attempt to
cover up symptoms. “I want to understand
what’s wrong before we try to fix it,”
explains Dauer.
Plus, understanding the role of torsinA
in brain cells is relevant to all neurological
disease. There is no previous research on
how this kind of cell abnormality affects
the nervous system. This concept promises
to change what scientists know about brain
cells and how to help them function properly.
Cashing In On Collaboration
Dauer’s story isn’t only about his work
and his results. He is an example of how
investing in good scientists perpetuates
progress and maximizes results. Thanks
to DMRF support, Dauer was able to hire
a promising young scientist named Rose
Goodchild, PhD to contribute her
FUNDING CONTINUED ON PAGE 10
9
Accrued Benefits
In a few short years, Dr. Dauer and his lab have:
• Created brand new mouse models of dystonia to test
his hypotheses
• Made mouse models available to other dystonia investigators
• Discovered that torsinA occupies a particular area of the
cell called the nuclear envelope
• Demonstrated that torsinA functions in conjunction with
another protein called LAP1
• Demonstrated that abnormalities in LAP1 produce similar
results to abnormal torsinA
What Is TorsinA?
TorsinA is a protein found in human brain, muscle, liver
and kidney tissues. A specific form of dystonia called DYT1
generalized dystonia results when a mutation in the DYT1
gene causes the body to produce abnormal torsinA. The
role and function of normal torsinA is not known, and
therefore how mutated torsinA causes dystonia also
remains a mystery.
TorsinA provides a unique opportunity to learn about all
dystonias. Preliminary data suggests that torsinA may play
a role in not only DYT1 but also common focal dystonias such
as cervical dystonia and blepharospasm. Understanding how
mutated torsinA undermines the nervous system and leads
to DYT1 dystonia symptoms may shed light on how these
other forms originate.
What Is The Stanley Fahn Award?
The Stanley Fahn Award is named after Columbia University’s
H. Houston Merritt Professor of Neurology and Director of
the Center for Parkinson's Disease and Other Movement
Disorders who founded and directed the first Dystonia
Clinical Research Center in the United States. Dr. Fahn’s
contributions to the dystonia community are immeasurable.
He devoted his career to advancing research and refining
treatment approaches, has spent decades training young
movement disorder specialists, and is a Lifetime Honorary
Director of the DMRF.
The purpose of the Stanley Fahn Award is to recognize and
support young investigators whose work in dystonia shows
particular innovation and promise. A young investigator is
defined as a person with an earned doctorate holding a
tenure-track appointment at the Assistant Professor level
or equivalent.
WINTER 2008
10
FUNDING CONTINUED FROM PAGE 9
Garden Variety Genomes
expertise to one of his investigations.
Goodchild has since evolved into a
primary investigator in her own
right, and has received multiple
DMRF grants for her creative
approach to the field.
DMRF Funds New Approach To Dystonia Genetics
In July, DMRF Science Officer Jan Teller, PhD traveled to London to visit
the lab of John Hardy, PhD, one of the DMRF’s 2008 grant recipients.
Dauer explains, “Dystonia is a hard
problem. One person isn’t going to
solve this, as much as I wish that
was the case.”
Dauer stresses the importance of
the DMRF’s role in supporting new
investigators and bringing scientists
together to address challenges.
“When you help DMRF,” Dauer
explains, “You help create a forum,
and that really matters. We need
the opportunity for interaction, a
chance to say ‘That idea is nonsense!’
or ‘That idea is really good.’”
Keeping Focus
Dauer is steadfast in his commitment
to studying dystonia. When members
of his lab come to him with data
from experiments, he asks: What
does this data mean? What direction
keeps us focused on the disorder?
He believes that one of his most
important roles in the lab is to
ensure that efforts to better understand torsinA are relevant to better
understanding how to improve lives.
“However rapid or slow the progress,
support is essential to moving the
ball forward,” says Dauer. “My plea
to people who are in a position to
give is to please consider supporting
dystonia research. This is the right
fight to be fighting.”
From left to right: DMRF Science Officer Jan Teller, PhD met with Susanne
Schneider, MD, Kailash Bhatia, MD, FRCP, Coro Paisan-Ruiz, PhD, and John
Hardy, PhD in London.
Dr. Hardy is Chair of Molecular Biology of Neurological Disease at the
University College London Institute of Neurology. He is a world-famous
geneticist and molecular biologist whose
research focuses on neurological disease.
He
has spent decades studying Alzheimer’s
The complete genetic
and
Parkinson’s diseases. Dr. Hardy is
make-up of a living thing.
now using his expertise to take a brand
In humans, the genome is
new approach to better understanding
the ‘blueprint’ that provides
the genetics of dystonia.
instruction for the body’s
GENOME:
development and function.
Dr. Hardy and his research team are
conducting a whole genome association study
of dystonia. This kind of study requires
two groups of volunteers: individuals with
Every person is 99.9%
dystonia and individuals without dystonia
genetically identical to
who
are nonetheless similar in every other
every other human being
way.
After obtaining blood samples from
on earth. Individuals are,
each participant, the DNA is analyzed
on average, 0.1% different
against a set of markers. Each participant’s
genetically from other
DNA is scanned for variations that
people.
distinguish that person from everyone else.
If these genetic variations are more frequent in the group of volunteers with
dystonia, there is reason to believe that these variations are associated with
the disease. These genetic variations become potential targets for new drugs.
DID YOU KNOW?
Most whole genome association studies require several thousand volunteers,
though investigators have obtained valuable results with far less for diseases
such as a form of blindness called macular degeneration.
11
CA N D I D K I D S
Young People
with Dystonia
Dystonia: A Kid’s Perspective
My Cheer Story
By Jake Overton
By Jana Sherry
Have you ever had a cold or
other disease like that? Well I
have something worse,
dystonia. Dystonia is a
disease that sends extra
signals through your nerves
that make your body do
things you don't want to do.
You can never get rid of
dystonia, but it is not
contagious. Dystonia does
not affect the way you think. What it makes me
do is bend my hand backwards, crunch my foot up,
and it makes my toes curl. It really hurts when
these things happen. For example, my toes get
calloused and sometimes even bleed. For me,
dystonia activates when I get an injury. When I
had a stress fracture in my leg this year my foot
started acting up.
Jake does not let dystonia stop
him from being a Boy Scout.
I sometimes go to Theraplay (physical therapy).
They help me by giving me stretches to do and
tests on my feet and hands to help determine
which medicine to use. Right now I am taking
special medicine that Theraplay and the doctor
think will help me. Sometimes it has effects like
drowsiness, weakness, and slight blindness.
In the future I may have to use a brace
on my hand or foot.
These are some things that
I know about dystonia and how it
affects me. Some day in the future
I hope they find a cure for dystonia.
But for right now I am just Jake.
Jake is 11 years old and lives in
Pennsylvania.
I am a senior in high school.
Since my freshman year, a goal
and dream of mine has been to
make the cheerleading squad.
This year I made the varsity
squad. It’s hard work, but I’m
having so much fun. I have
made new friends because
of cheer.
Jana c
Friday nheered at her fi
ight foo
tball ga rst
me.
In September I cheered at my first Friday night
football game. I loved every minute of it. So many
people came up to tell me how proud they were of
me. I am proud of myself for having the courage to
be out there.
I feel it’s important for kids and young adults to
listen to their heart and follow their dreams. When
I am cheering, I feel so good knowing that my dream
came true. Don’t worry about what others think. Show
the world how great you are! Have fun with life!
Jana is 18 years old and lives in California.
Siblings Work Together For Dystonia
Megan Bartlett and siblings Zak Coffey, Luke Coffey,
Chase Coffey, Autumn Coffey, Moriah Coffey, and
Hannah Coffey along with neighborhood friend Sara
Shamlin had a lemonade stand to raise money for
dystonia. For six hours they stood in the
hot sun selling lemonade and giving out
DMRF bookmarks. When a customer
asked what dystonia was, one of the
siblings pointed to Megan and said,
“She has it!” To which Megan would
add, “It stinks!” They raised $90!
Megan, Zak, Luke, Autumn, Moriah,
and Sara Shamlin posed for a photo.
gs
nd siblin
Megan a
Great team work!
WINTER 2008
12
PEOPLE ON THE MOVE
The DMRF prides itself on having the most enthusiastic and creative volunteers any organization could
ask for. We couldn’t handpick a more dedicated bunch. The combination of awareness, fundraising,
and fun makes for unique and enjoyable activities for every season. We are grateful for every effort.
The New Jersey Chapter hosted the
10th Annual Golf Invitational in June.
Congratulations to DMRF Treasurer
and event Chair Lee Shulman for
this very successful event. Michele
Tagliati, MD of Mount Sinai School
of Medicine was the honoree.
Welcome and thanks to Judy Bozza
for assuming the role of Leader of
the New Jersey Chapter. Much
appreciation to past leaders Lois
and Norm Gebeloff for their years
of service and continuing efforts
on behalf of the New Jersey Chapter
and the DMRF.
DMRF Executive Director Janet
Hieshetter was invited to attend
the Birmingham, Alabama Support
Group meeting in August to update
members on the latest DMRF news
and research. The group is led by
Pat Wyatt and fellow officers
Ken Williams and Trisha Crain.
Carol Ann Peralta continues to
make her mark in awareness by
using her skin as the ultimate
educational tool.
Carol Ann recently
got her second
dystonia awareness tattoo
in honor of
her daughter
Allison who
underwent deep
brain stimulation.
Allison graced the
cover of the Summer 2008 issue of
the Dystonia Dialogue.
Timothy Hornsby and family have
been distributing DMRF bookmarks
and pamphlets to locations throughout southeast Alabama. They also
succeeded in having multiple
Letters to the Editor published
in area newspapers.
The 2nd Annual Metropolitan DC
Dystonia Golf Classic took place
on a picture perfect September
day at Bretton Woods Golf Course
on the Potomac River. Organized by
Donna and Tom Driscoll, the event
attracted 90 golfers. An additional
50 guests attended the evening
festivities which featured dinner, an
awards banquet, and live Irish music
by the McTeggarts. Dave Zahren of
ABC TV 7 led the lively auction from
the podium, assisted by Donna and
Tom. The event raised $25,000.
Donna commented that even though
this year was a bit of a challenge
because of the economy, a large
number of donors made small
donations which really added up.
Donna said, “The day was wonderful,
and people really loved it. That’s all I
As a result of the publicity Jason Dunn of Warren, Michigan
has received in recent months surrounding his life with
dystonia and urgent need for an accessible home, the Detroit
Tigers baseball franchise invited him to a home game at Tiger
Stadium with special VIP access. Jason and friends Paul Prinzi,
and Mike Delise toured the press box, met broadcasters and
players, and viewed the game from a special wheelchairaccessible area in left field. Links to media stories about
Jason can be found at www.dystonia-foundation.org under
“News & Resources,” then “Dystonia In The Media.” Photo
courtesy of John Greilick/The Detroit News.
DYSTONIA DIALOGUE
can hope for!” Read more about this
special event at www.dystoniafoundation.org
Jon Ogle and family of New Jersey
are promoting awareness and fundraising in honor of Jon’s mother who
was diagnosed with dystonia seven
years ago. In addition to distributing
materials and merchandise, Jon’s
latest effort is to use the storefronts
for his employer Custom Computers
and his own business network
corporation to display awareness
exhibits. Jon has also begun several
matching grant incentives and
promised his employees a day off
with pay for each time they meet
those fundraising goals.
The DMRF hosted the St Louis
Dystonia Community Education
Forum in September. Keynote
speakers were Joel Perlmutter, MD
of Washington University School of
Medicine and Cheryl Faber, MD of
Neurology Associates in St. Louis.
Carol Boshart gave a very
compelling presentation on her
experience with dystonia and the
importance of volunteerism.
13
Farewell Concert Promotes Awareness
Musician Michael Hadfield Retires
The Racquette River Rounders
performed a farewell concert in
upstate NY. From left to right:
Michael Hadfield, Danny
Gotham, John Kribs. Photo
“The DMRF helped me diagnose
myself years ago, and I am so grateful!”
says musician Michael Hadfield, whose
cervical dystonia forced him to retire from
a 39-year performance career. Michael
stresses, “This is not a sob story. I have a
very satisfying second career as a children's
librarian and, so far, dystonia is letting
me do that in a way that is reasonably
comfortable.”
Michael officially retired from music
in December 2007, but his band mates
courtesy of Mickey Gale.
— The Racquette River Rounders—
persuaded him to do two more gigs in 2008: a public show in Edwards,
New York and a brief appearance at an annual event for the Southern
Adirondack Musician's Fund. Michael used the concerts as an opportunity
to educate the standing-room-only audiences about dystonia.
“Both concerts were very emotional and very rewarding,” says Michael.
“I saw relatives, friends, and folks I hadn't seen since high school.”
Michael is on a botulinum toxin regimen and reports that, “everyday life is
usually OK.” He credits his doctor Eric Molho, MD of Albany Medical
College and his wife Patte for their unyielding support.
Volunteers Needed For Hand Dystonia Study
We want
to hear
from you!
Please contact us
with news of your
activities and events
so that we can share
your efforts with
our readers.
In a DMRF-funded investigation, Teresa Kimberley,
PhD, PT is studying an experimental treatment for
writer’s cramp (focal hand dystonia) at the University
of Minnesota in the Department of Physical Medicine
and Rehabilitation. This investigation involves the use
of a technique called repetitive transcranial magnetic
stimulation (rTMS) that non-invasively stimulates
the brain.
Volunteers must travel to the University of Minnesota
for a minimum of five days to participate. For more
information, please contact Teresa Kimberley, PhD, PT at 612-626-4096
or [email protected]
14
WINTER 2008
New Support Group
In Palm Springs Area
Bikers Rally For Dystonia
“I’ve learned my story is not uncommon,” says Kimberly
Hough of Rancho Mirage, California, as she chronicles
her struggle with getting a
diagnosis for the strange neck
pain and tremor that ambushed
her, seemingly overnight. After a
year of shuttling from one doctor
to the next, tentative diagnoses,
and extensive testing, Kimberly
was diagnosed with cervical
dystonia in December of 2007.
The 2nd HARD Drive—“Hamilton Area Ride for
Dystonia Drive”—took place on a very rainy September 7.
Organizers expected between 75 and 100 riders. Despite
the weather, 38 brave bikers came out to support the
cause. The ride was 172 km (approximately 106 miles)
and took the riders on a scenic country route that
included a stop in Port Dover, Ontario by Lake Erie.
“I am so grateful that I was
referred to such a wonderful
movement disorders specialist
here in the Palm Springs area
—there aren’t enough positive adjectives to describe
Dr. Hermanowicz.” Neal Hermanowicz, MD is Medical
Director of the Phillip and Carol Traub Parkinson's Center
at Eisenhower Medical Center in Rancho Mirage (in addition
to his position at the University of California, Irvine).
Dr. Hermanowicz diagnosed Kimberly, began her on
botulinum toxin therapy, and put her in touch with Martha
Murphy, Leader of the Support and Advocacy Group of
San Diego County and fellow cervical dystonia patient.
“It’s so helpful and reassuring to know that other people
are out there—others who know what it’s like to live with
dystonia day to day, hour to hour,” says Kimberly.
Kimberly Hough leads
the new Dystonia
Support Group of
Palm Springs.
When Kimberly learned that the nearest dystonia support
groups were hours away, she decided to start one in her
community. The group’s first meeting is scheduled to take
place November 17, 2008.
“It’s stressful to not know what is wrong with you,” says
Kimberly. “It’s been a long haul, but I’ve learned so much.
It’s so important to find a movement disorder specialist
you’re comfortable with and who is knowledgeable.”
Kimberly is eager to help others in her community who
are living with dystonia or struggling through the
diagnosis process.
Individuals who are interested in the Dystonia Support
Group of Palm Springs are welcome to contact Kimberly
at [email protected] or 760-799-9993.
Hamilton, ON Group Hosts Poker Run
The ride was a ‘poker run.’ There were five stops along
the route where riders stopped to select a playing card,
and the value of
each card was
recorded onto a
poker sheet. At
the end of the
run, the rider
with the best
poker hand was
awarded a prize.
In addition,
A rainy day didn’t deter bikers from
attending a poker run hosted by the
along the route
Hamilton Area Support Group.
there was a
secluded stop
where only the most observant riders could stop and pick
a sixth card to better their hand.
Following the ride, participants gathered for the
distribution of wonderful raffle prizes, fun door prizes,
and awards for the best and worst poker hands. And
there was plenty of barbeque. Twenty volunteers form the
Hamilton Area Support Group braved the weather and
helped make the drive a success. Group leaders Laurie
Bell and Rose Gionet received nothing but positive
feedback on the route of the run, the prizes, and the
overall fun had by everyone that came out. Scores of
participants promised to return next year.
Primary organizers Rose and husband Roland Gionet
made a promise of their own: “With the help of
volunteers, we will certainly put together another
event next year—rain or shine!”
DYSTONIA DIALOGUE
15
SUPPORT
The Web We Weave
Internet Provides Connections For Dystonia Community
People in the dystonia community
have more opportunities than
ever to reach out and
communicate with others
living with the disorder.
The Internet—also
commonly referred to as
the World Wide Web or
simply the Web—erases
the geographical miles
between individuals,
makes many physical
disabilities temporarily
moot, and provides a buffet
of information from sources
around the world.
ARTICLE AT A GLANCE
• People of all ages in the
dystonia community are
using the Web.
• The Web offers opportunities
for people in the dystonia
community to socialize
without leaving their homes.
• Instant messaging allows
people to exchange
messages at the pace of
conversation.
• The Web offers an
alternative to the sense of
isolation often associated
with dystonia.
The Internet is vast
and ever-changing.
The following
article provides an
overview of just
some of the online
instruments and
forums that
individuals with
dystonia—from
teenagers to people
in their 70s—are
using to enrich
their lives.
“I suspect my life
would be very
miserable without
the Internet,”
explains Kathy Amaru of New South Wales, Australia
who was diagnosed with Meige’s syndrome in 2004.
“On the Internet, I am just Kathy. Not a person with
weird face expressions and bobbing head,” she says. “I
guess I feel ‘normal.’”
Websites & Search Engines
Businesses, organizations, government agencies, and
individual people can build and publish websites. Search
engines such as Google, Yahoo, and GoodSearch provide
websites that allow a person to find and access other
websites. A website’s address is often called a link.
The Dystonia Medical Research Foundation (DMRF) is
located at the Web address www.dystonia-foundation.org.
The DMRF website provides information on dystonia
and treatments, a directory of healthcare and mental
health professionals, support contacts, and numerous
other resources. “The DMRF website has been a very
helpful learning tool,” explains Karen Haag of Sanford,
Michigan. Karen has lived with generalized dystonia for
approximately 23 years.
Email
Email allows people to send typed messages to one
another. These messages can include attachments such
as documents, photos, videos, and other kinds of
computer files. Equally relevant to business and personal
communications, email has dramatically changed the
ease and pace with which people communicate.
Individuals can sign up to receive updates from the
DMRF via email. These updates include the monthly
eNews, legislative advocacy alerts, Junior Advisory
Council updates, or regional announcements. Email
provides a quick way to stay informed on DMRF
activities.
During Dystonia Awareness Week 2008, the DMRF
gave volunteers the opportunity to raise money for
research through their own email fundraising campaign.
Paul Bartlett of Melbourne, Florida recruited the largest
number of donors and raised the most funds. He did
so on behalf of his 11-year-old daughter Megan who
has dystonia. See page 11 to read about Megan’s
lemonade stand.
THE WEB CONTINUED ON PAGE 16
WINTER 2008
16
THE WEB CONTINUED FROM PAGE 15
Who’s Using The Web?
In this article you’ll meet:
Chat rooms are forums where groups of people can use
IM together. Chat rooms exist for every conceivable
affiliation, interest, and curiosity—in many ways they
are virtual clubs. A dystonia chat room is available via
the Online Dystonia Bulletin Board (see below).
Individuals may use the chat room any time to ‘meet,’
and special times are regularly scheduled for individuals
to get together.
Kathy Amaru, pictured
with her family
Paul Bartlett, pictured
with daughter Megan
and dog Sam
Jason Dunn, pictured
with neurosurgeon Jerrold
Vitek, MD, PhD
Ramona Edwards
Not pictured:
Joshua Tan
Beverly Wagner
Karen Haag
Instant Messaging & Chat Rooms
Instant messaging (IM) is a form of real-time
communication in which people can exchange typed
messages instantly. This technology is a revelation for
individuals whose dystonia prevents them from speaking
easily, especially on the telephone. IM allows people to
communicate at the pace of conversation. Individuals
can also exchange files and links. Cameras called web
cams can be set up to allow individuals to view each
other while ‘chatting’ online.
Message Boards
People use message boards to post typed messages and
invite public responses or private emails from others
who view the message board. The Online Dystonia
Bulletin Board (BB) has thousands of members from
all over the world. Beverly Wagner of Maryland was
diagnosed with dopa-responsive dystonia at the age of
42 after a lifetime of being told she had cerebral palsy.
She explains, “I love this bulletin board. The people here
have an incredible understanding of what I go through
on a daily basis that not many people in my life
understand completely.”
The Online Dystonia Bulletin Board provides insight
to not only people with dystonia and their family
members, but others as well. Karen Haag in Michigan
explains, “My doctors often come to this BB to read
what we are posting and to see how we deal with
our dystonia.”
The Online Dystonia Bulletin Board and Dystonia
Chat Room can be accessed at www.dystoniabb.org/forums/asd/
A message board for individuals with dystonia about
deep brain stimulation surgery is available through
Yahoo! Groups at http://health.groups.yahoo.com/
group/DBSforDystonia
DYSTONIA DIALOGUE
Social Networking Websites
The last several years have seen an explosion in social
networking websites—i.e. websites where people can
meet and communicate with others regardless of
geography. These sites may be geared toward dating,
business networking, or special interests. Sites like
MySpace.com and Facebook.com allow members to
outfit their own page with graphics, music, blogs
(see below), and other self-expressions. The DMRF
has pages on both MySpace and Facebook.
“The Internet has become my lifeline to the outside
world. I use MySpace and have found a great dystonia
group through there,” says Karen.
Many people use social
networking websites
as a way to keep
in touch with
friends and
family without
necessarily having
to contact them
individually.
For example,
Caringbridge.org
was specifically created
to help people and families
experiencing serious illness to
keep family and friends updated. Multiple DMRF
families have created pages on this website. This is a
more private forum than sites such as MySpace.com in
that you must receive an invitation from the person
who created the page to view it.
The site YouTube.com allows people to post video clips.
A search for the word ‘dystonia’ on YouTube results in
scores of videos posted by people in the dystonia
community. Individuals who view the films can send
messages or post comments in response to the videos.
Thirty-year-old Jason Dunn of Michigan has lived with
generalized dystonia since he was a young child. He uses
YouTube to promote awareness and demonstrate that
despite having great difficulty walking, sitting, and
speaking he is capable of surprising athleticism. He
can sprint, kick a football, and bowl. “When I’m in a
wheelchair I look more handicapped,” says Jason. “It
17
looks like I can’t do much at all. And it doesn’t look like
I can bowl a strike!”
Jason uses the Web daily. He says websites like MySpace
and technology like instant messaging allow him to
express his personality and humor better than he can
in person. “It really helps me to communicate,” he says.
Blogs
With a name slightly reminiscent of a swamp creature
from a 1950s horror film, a phenomenon called the blog
has permeated the Web. A blog (an abbreviation of the
term web log) is essentially a public diary. Individuals
author and publish a series of editorial-type articles.
These entries may espouse the interests of a specific
organization or cause, or simply publish the ruminations
of an individual who wishes to publicly share anecdotes
from his/her life.
If you enter ‘dystonia blog’ into a search engine, you may
be surprised by the number and variety of personalities
who are sharing their stories.
Dystonia & The Web
Access to the Internet is more prevalent than ever.
Personal computers are increasingly affordable, and
select vendors even allow people to use their televisions
to access the Internet. Public Internet access is commonplace in libraries, community colleges, and community
groups. Instruction for newcomers to the Web is available
from numerous public sources. Coaching from a family
member, colleague, or your average kindergartener can
be just as effective as a formal workshop.
The Web adds a whole new element to living with
dystonia. It offers an alternative to the loneliness and
isolation often associated with dealing with a chronic
illness, mobility challenges, speech difficulties, and not
having access to face-to-face interaction with others
who understand the disorder. “I do develop relationships
online with other dystonia patients, and we’re occasionally
able to meet in person,” says Ramona Edwards of Alabama
who was diagnosed with adult-onset generalized dystonia
in 2006.
“You get to know that you’re not the only one with
unusual symptoms, and you learn how others get through.
I can’t find anyone in my area to meet face-to-face,” says
THE WEB CONTINUED ON PAGE 18
WINTER 2008
18
THE WEB CONTINUED FROM PAGE 17
Joshua Tan who is in his late
adolescence and lives in Malaysia.
The Web provides individuals with
the opportunity to educate others as
well as themselves. For those who
want to volunteer with the DMRF
but don’t know where to start, it
makes promoting awareness and
fundraising easier than ever.
The Web presents unprecedented
ways for the DMRF to locate the
mis- or undiagnosed, provide
information on dystonia and
treatments, and enlist new
donors—including those beyond
the dystonia community—to
contribute to research.
Make the most of what the Web
can do for you. Start by visiting
www.dystonia-foundation.org or
www.myspace.com/thedmrf
Coping Tip:
Speaker Phone
Sometimes little things make a big
difference. DMRF Member Natalie
Caplin was diagnosed with cervical
dystonia approximately 26 years
ago. She noticed that holding the
telephone receiver to her ear
triggered her head to tremor so
much that she was largely unable
to use the phone. “If I was on the
phone with a real talker, it wore me
out!” she says. However, using the
speaker phone function allows her
to speak comfortably for long
periods of time. She is now able
to use the phone without tiring.
Play Nice
Basic Web Etiquette
The Web has become its own culture. And for each of the different ways to
communicate online—email, instant messaging, chat rooms, blogs, social
networking sites, and forums—there
are written and unwritten codes of
conduct. For most newcomers to the
Web, it’s relatively easy to get up to
speed on these parameters.
Here are a few general tips for
communicating effectively online:
• Most chat rooms, forums, and online communities have rules or
guidelines by which participants are asked to abide. Be familiar with
these rules before participating.
• Protect your privacy. Be extremely cautious about divulging your full
name or personal information online, especially when socializing. Refrain
from revealing the full names or identifying information of other people.
• Be mindful of not posting excessively long messages or ranting.
• Realize that writing IN ALL CAPS may be understood as ‘yelling.’
• Remember that the Web is public. Very few online forums or communities
are truly private.
For more information on Internet etiquette and safety, visit:
www.microsoft.com/protect
GR8 News! Texting Comes To DMRF
Are you among the countless Americans who can’t
live without texting? Now it’s easier than ever to stay
informed on what's going on at the DMRF and how
you can help us get closer to a cure. The DMRF is
pleased to announce our gr8 (great) new text message
alert program. Sign up today to receive text alerts
about what's going on in the dystonia community.
Your information will be kept confidential and will
not be sold or shared with other organizations.
Sign up today by sending the text message DYSTONIA to 90999.
SIT (Stay In Touch). MTFBWU (May The Force Be With You).
DYSTONIA DIALOGUE
19
SUPPORT
Frequently Asked Questions About
Social Security Disability Benefits
By Anthony J. DeLellis, Esq.
Social Security and Supplemental
Security Income disability programs
are the largest of several federal
programs that provide financial
assistance to people with disabilities.
While these two programs are
different in many ways, both are
administered by the Social Security
Administration and only individuals
who have a disability and meet
medical criteria may qualify for
benefits under either program.
Social Security Disability Insurance
(SSDI) pays benefits to you and
certain members of your family if
you are ‘insured,’ meaning that you
worked long enough and paid Social
Security taxes.
Supplemental Security Income (SSI)
pays benefits based on financial
need.
Q. What is the definition that
Social Security uses for disability?
A. According to the Social Security
Act, "disability" is the "inability to
engage in any substantial gainful
activity by reason of any medically
determinable physical or mental
impairment which can be expected
to result in death or has lasted or
can be expected to last for a
continuous period of not less
than 12 months."
Q. What documents do I need to
apply for Social Security
disability?
A. You may need any of the
following:
• Social Security card (or a record
of your number)
• Your birth certificate or proof of
US citizenship or lawful
immigration status if you were
not born in the US
• Your military discharge papers
if you had military service
• W-2 form from last year of
employment, or your last tax
return if you're self-employed
Note: If you are missing a document,
don't delay signing up for Social
Security disability. You will need to
provide that document later, but the
application date is important.
Q. I am definitely disabled, so I
should have no problem with
having my application for benefits
approved, right?
A. Unfortunately, almost 60% of
original applications for Social
Security disability benefits are
denied. Many of these are approved
during the appeals process.
Q. Do I have to go into the Social
Security office to apply for disability
payments? It is so difficult for me
to get transportation.
A. It is now possible to file
for Social Security disability
benefits online at www.ssa.gov/
applyforbenefits/ to start your
application.
Q. I have heard about a list of
approved disabilities for benefits.
Is dystonia on this list?
A. There is a list within the Social
Security system that allows a claimant
to automatically qualify for benefits.
Actually there are two: one for adult
disabling conditions and one for
children that lists applicable impairments. Dystonia is not explicitly
included in this list, and it does
not need to be for you to qualify
for benefits. You only need to prove
that your disability is the equivalent
of a condition that has already
been approved for benefits.
For More Information
To locate an experienced Social
Security attorney in your area and
information about disability benefits
contact The National Organization of
Social Security Claimants' Representatives at www.nosscr.org or phone
800-431-2804.
Anthony J. DeLellis is the principal of DeLellis and Associates in San Diego, California. As a member of the California Bar Association since
1981, Mr. DeLellis has represented thousands of injured workers and disabled clients throughout his career in several states, both in the state
and federal courts. Mr. DeLellis is a member of the California Applicant Attorney Association, the Workers Compensation section of the State
Bar of California, and the National Organization of Social Security Claimants Representatives.
WINTER 2008
20
AWARENESS
Dystonia, Tremors, & Parkinsonism
By Aleksandar Videnovic, MD, MSc, Department of Neurology, Feinberg School of Medicine,
Northwestern University, Chicago
Hand tremors may be seen in
patients with dystonia, especially
cervical dystonia. These tremors
seem to resemble essential tremor,
which is the most common of all
movement disorders. However, it
is not clear whether hand tremors
in individuals with dystonia are
the same as dystonic or essential
tremors, or some other type of
tremor.
Dystonia is a neurological disorder
that causes the muscles to contract
and spasm involuntarily. These
muscle contractions lead to
abnormal postures or repetitive
movements. Many individuals
with dystonia symptoms are
misdiagnosed, at least initially.
An accurate diagnosis is the
first necessary step toward the
appropriate treatment. In this
article we discuss the overlap
between dystonia, tremors, and
parkinsonism that may cause
confusion in the diagnosis.
Dystonia & Tremor
The accurate diagnosis of dystonia
depends on the physician’s ability to
recognize dystonic movements. These
movements result from involuntary
contractions of certain muscle groups,
leading to twisting, turning, or
contorting of various body parts.
Examples include forced eyelid closure
in blepharospasm, head movements in
cervical dystonia, or a strained voice in
laryngeal dystonia (spasmodic dysphonia).
ARTICLE AT A GLANCE
• Individuals with dystonia
may also have tremor.
• There are several types
of tremor.
• Individuals with certain
dystonias may have
parkinsonism.
Dystonia & Parkinsonism
In order to better understand
the overlap between dystonia
and parkinsonism we must
understand the distinction
between primary and secondary
dystonia. The word primary describes
a case in which the dystonia is the
only neurological disorder that a
person has, besides dystonic tremor
(see above).
Secondary dystonia is caused by other
neurological or metabolic diseases,
medications, toxins, infections, tumors,
or trauma. Because of these factors,
people with secondary dystonia often
experience additional neurological
symptoms such as parkinsonism,
seizures, cognitive issues, ataxia,
or muscle weakness.
• Parkinsonism and
Dystonic movements are repetitive
Parkinson’s disease
and patterned, meaning that they
are not the same thing.
repetitively involve the same group
of muscles. The repetitive nature of
dystonic movements may result in jerky
Parkinsonism is a syndrome characterized by
motions that resemble tremors. This kind of movement
slowness, tremors, and stiffness. One of the most
is called dystonic tremor. A dystonic tremor is irregular,
common causes of parkinsonism is Parkinson’s disease
and the direction of the tremor is opposite to the
(PD). Parkinsonism and Parkinson’s disease are not
primary movement of dystonia. By comparison, a
the same thing. Parkinsonism describes a certain
‘classical’ tremor is characterized by a rhythmic
variety of physical symptoms. Parkinson’s disease
pattern, leading to equal movements in all directions.
DYSTONIA DIALOGUE
21
Dystonia and parkinsonism are very distinct. Dystonia creates too much
muscle movement. Parkinsonism creates too little movement—
it may appear as if the individual is moving in slow motion.
How Can
I Learn More?
is a disorder that includes a wide spectrum of physical, emotional, and
systemic symptoms.
Visit www.dystoniafoundation.org
to learn about these
and other forms
of dystonia:
Individuals with dystonia—including those with parkinsonism—are not
considered at increased risk of developing Parkinson’s disease. However,
individuals with Parkinson’s disease may develop dystonia. Dystonic symptoms
in Parkinson’s disease usually affect the lower extremities, and manifest as
toe-curling, foot turning, or painful calf spasms. These symptoms are often
present during the night/early morning, or develop several hours after treatment
with a medication called levodopa. These symptoms can be quite painful but
usually respond to treatment.
• Blepharospasm
• Cervical dystonia
(spasmodic torticollis)
• Dopa-responsive dystonia
• Generalized dystonia
(DYT1 and non-DYT1)
• Laryngeal dystonia
(spasmodic dysphonia)
• Musician’s dystonia
• Myoclonic dystonia
• Oromandibular dystonia
• Paroxysmal dystonia
and dyskinesias
• Psychogenic dystonia
• Rapid-onset dystoniaparkinsonism
• Secondary dystonia
• Tardive (drug-induced)
dystonia
• Writer’s cramp
(hand dystonia)
• X-linked dystoniaparkinsonism (lubag)
Dystonia is very common in patients with juvenile Parkinson’s disease caused
by mutations in the parkin gene. These patients develop parkinsonism before
the age of 40 years and may have dystonia as one of the prominent symptoms.
The dystonia is usually painful and mainly affects the lower limbs. Other
body parts may be affected as well. Symptoms fortunately respond well to
standard treatments for Parkinson’s disease.
Other causes of parkinsonism, so-called parkinson-plus syndromes, are
associated with dystonia more frequently than Parkinson’s disease. These
disorders include corticobasal degeneration, progressive supranuclear palsy,
and multiple system atrophy.
Dystonia-plus
Certain genetic forms of dystonia occur with prominent symptoms that
resemble other movement or neurological disorders, including parkinsonism.
These include dopa-responsive dystonia, rapid-onset dystonia parkinsonism,
and myoclonic dystonia. For information on these forms, visit www.dystoniafoundation.org and click “Dystonia Defined,” then “Forms Of Dystonia.”
Conclusion
Dystonia is a complex neurological syndrome. In some cases, individuals
may experience additional symptoms such as tremor and parkinsonism.
Proper diagnosis is dependent on the accurate recognition of movements.
Dystonia may be the primary diagnosis or be a component of other
neurological disorders.
WINTER 2008
22
Solutions For Reimbursement Difficulties
Allergan Offers Two Patient Programs
Many insurance plans, as well as Medicaid and Medicare, cover the cost of
BOTOX® (botulinum toxin type A) treatments for certain conditions. But for
many people who are uninsured or underinsured, these treatments may seem
out of reach or difficult to obtain. The reimbursement process for those who
are insured can be confusing, and out-of-pocket costs may prevent them from
receiving the treatment they need. Fortunately, there is help.
BOTOX® Reimbursement Solutions was created by Allergan to help individuals
and their doctors with a variety of resources and programs designed to make
BOTOX® available to more people in need as well as to make the reimbursement
process easier. At the heart of this effort is the BOTOX Patient Assistance®
Program that provides the product to physicians for treatment of their patients
who are uninsured or underinsured. Certain eligibility requirements apply. Full
details about requirements and the application process can be obtained by
calling a toll-free hotline or going online (see below).
Additional help is available through the Cervical Dystonia Fund, a separate
patient assistance program for people with cervical dystonia. The Cervical
Dystonia Fund is dedicated to assisting insured patients who cannot afford the
out-of-pocket costs associated with any FDA-approved treatment for cervical
dystonia. This program is administered by the National Organization for Rare
Disorders, Inc. (NORD), an independent, non-profit organization. Allergan is
a proud sponsor of the Cervical Dystonia Fund.
A small, unscientific telephone survey of people who have used either the
BOTOX Patient Assistance® Program or the Cervical Dystonia Fund revealed
their thoughts about these programs. Here’s what a few of them had to say:
“There was a time when I couldn’t afford my BOTOX® injections. Once I
even had to leave my doctor’s office without them after I had I traveled
about 3-hours to get there. Then I received a pamphlet about the BOTOX
Patient Assistance™ Program. I gave the assistance place a call and have
never had a problem since.”
“There is some paperwork involved, but it’s worth it and you get the help you
need. It’s worth it to be able to get the medicine and get the relief.”
“The help from the CD Fund is excellent. Before I was not able to get my
shots. Now I have extra help paying for them.”
For more information on the BOTOX® Reimbursement Solutions Hotline,
contact: 800-44-BOTOX, Option 6 (Monday-Friday 9am-8pm EST).
Or visit the BOTOX Patient Assistance® Program website:
www.BOTOXPatientAssistance.com
For more information on the Cervical Dystonia Fund, contact NORD
at 800-999-6673, Option 3.
Reimbursement
Assistance For
MYOBLOC®
Treatment
Individuals who are prescribed
botulinum toxin type B and are
uninsured or underinsured may
be eligible for assistance from the
Solstice Neurosciences, Inc.
Reimbursement Services
Program for MYOBLOC®.
Because insurance coverage
is different for each individual,
Solstice staff will help your
physician:
• Clarify your insurance benefits
and determine if your specific
plan covers injectable drugs such
as MYOBLOC® for your
condition
• Clarify what you have to pay
(co-payment/coinsurance) for
your treatment
• Understand appropriate billing
and coding procedures so that
claims for MYOBLOC® are
submitted accurately to your
insurance company
Reimbursement for prescription
medicines is determined by each
individual insurance company.
We recommend that you work
with your physician’s office to
determine whether MYOBLOC®
treatment will be covered under
your plan. The Solstice Reimbursement Services Program can
help your physician answer this
question for you.
For more information on
reimbursement services, please
call 888-461-2255 (Monday–
Friday 8am–7pm EST) or visit
www.myobloc-reimbursement.com
DYSTONIA DIALOGUE
23
Genetic Researchers Need Your Help
Seeing Double?
Finding genes associated with dystonia may be the key
to understanding how to better treat or cure the
disorder. A collaborative team from Beth Israel Medical
Center and Mount Sinai School of Medicine is
conducting a study aimed at finding these genes. If there
are two or more living individuals in your family with
any form of dystonia you may be eligible to volunteer
for this important study. Participants will be asked to
complete a short questionnaire and medical record
release form, sign study consents, and give a blood
sample. Your information will be kept strictly
confidential.
If you are receiving duplicate mailings of the
Dystonia Dialogue, please contact us at 800-377-3978
or [email protected] so that we may
correct our mailing list. Please pass along that extra
magazine to someone who might benefit from it.
You can help to unlock the mysteries of dystonia. For
more information please contact:
The Reach Out Network for OMD Dystonia
provides guidance, support, and information to people
with dystonia of the face and mouth. All interested
persons are encouraged to contact Larry Stahl at
[email protected]
Deborah Raymond, MS
Beth Israel Medical Center
Phone: 212-844-6053
Toll free 888-228-1688
Email: [email protected]
•••
The Paroxysmal Dystonia & Dyskinesias (PDD)
Network is a resource for people who have PDD
or are interested in learning about PDD. For more
information contact [email protected]
•••
Brain Donation: A Selfless Act
By Martha Murphy, Brain Bank Liaison
Registering as a brain donor is a selfless act that can ultimately benefit the entire dystonia community.
Scientists are provided a unique opportunity to learn more about this complex disorder by analyzing
donated brain tissue from dystonia-affected individuals as well as those who do not have dystonia. The
DMRF partners with the National Institute of Child Health and Human Development Brain & Tissue Bank
for Developmental Disorders at the University of Maryland, Baltimore. The goal of this partnership is to
collect a substantial number of dystonia-related brains and make them available for study by qualified
researchers.
For those of you who have already registered as brain donors, we applaud your generosity and thank
you very much. As someone who has lived with cervical dystonia since 1975, I am fully aware of the
importance of this critical research.
To register, confirm your donor status, or learn more about this program, contact me at
[email protected] or call DMRF headquarters at 800-377-3978 or 312-755-0198.
I am happy to return your call. Please provide your full name, address, phone number, and email address.
Become a brain donor and make a difference!
Dystonia Dialogue
Dystonia Medical Research Foundation
One East Wacker Drive • Suite 2810
Chicago, Illinois 60601-1905
PHONE 312 755 0198 • FAX 312 803 0138
EMAIL [email protected]
WEB www.dystonia-foundation.org
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