Summer 2008 - Dystonia Medical Research Foundation

MAGAZINE OF THE DYSTONIA MEDICAL RESEARCH FOUNDATION | SUMMER 2008 | VOL. 31 • NO. 2
5 Research
In 2008
10
Dystonia
Advocacy Day
18
Focus On
Focal Dystonias
inside this issue
7
Research In 2008
New research and updates
10 Advocacy Day 2008
Volunteers convene on Capitol Hill
12 Candid Kids
Stories from young members
17 A Gift That Keeps Giving
The benefits of brain donation
18 Focus On Focal Dystonias
Personal stories and science update
What is Dystonia?
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
eralta
Allison P
On the Cover:
Nine-year-old Allison Peralta of New York
is looking forward to many hours at the
public pool this summer. In April of 2008,
almost two years after her first deep
brain stimulation procedure, she required
a battery replacement. Allison’s
physicians are working to re-program
the new stimulator for the optimal
settings. Her mom Carol Ann reports
that Allison’s symptoms are improving
and, “she always has a smile on
her face and a song in her heart.”
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
Canadian donations may be sent to:
Dystonia Medical Research
Foundation Canada
8 King Street • Suite 106
Toronto, Ontario Canada M5C 1B5
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.
Staff
Janet Hieshetter
Executive Director
Kathleen Behner
Director of Operations
Ray Chaudhuri, PhD
Director of Strategic Alliances
Jessica Feeley
Editor and Special Projects
Margaret Keating
Bookkeeper
Julie Mack
Administrative Coordinator
Martha Murphy
Brain Bank Liaison
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
This issue of the Dystonia Dialogue is generously supported by The Medtronic Foundation.
DYSTONIA DIALOGUE
3
INSIDE DMRF
Foundation Update
CLAIRE CENTRELLA
The leadership of the Dystonia Medical Research Foundation (DMRF) realizes that we are
not going to solve the mysteries of dystonia alone. In our pursuit of better therapies and a
cure, reaching out and forming partnerships with individuals, organizations, and institutions
is vital to our success.
PRESIDENT
JANET HIESHETTER
EXECUTIVE DIRECTOR
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
John Golden
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
Ann Lebrun,
Leadership Chairperson, ex officio
The DMRF is working with other dystonia patient organizations to support an application
to the Office of Rare Diseases (ORD) for the development of a dystonia clinical consortium.
By ‘clinical consortium,’ we mean creating a partnership that could support a large-scale,
shared research project—for example, a trial for a new therapy. This kind of collaboration
has potential to greatly advance the field because the organizations involved will join forces
and pool resources. Instead of spreading federal dollars among the individual organizations,
the ORD is more interested in funding larger research projects born from collaboration among
like-minded groups. We proudly joined with the Benign Essential Blepharospasm Research
Foundation, National Spasmodic Dysphonia Association, Bachmann-Strauss Dystonia
and Parkinson Foundation, WE MOVE, National Spasmodic Torticollis Association, and
DySTonia, Inc. to communicate with our researchers and clinicians about this opportunity.
We hosted a joint meeting in April to provide researchers the opportunity to learn more
about the application and express interest in participating. This project is ongoing, and
we will keep members posted.
Similarly, the DMRF supports the European Dystonia Federation’s efforts to host a medical
and research forum October 17-19, 2008 in Germany to highlight the latest developments
in clinical practices and treatments for physicians. Leading experts from throughout Europe
and North America will make presentations, and the latest research will be discussed in the
Science Programme and showcased in poster sessions.
The DMRF’s ongoing partnership with the National Institutes of Neurological Disorders
& Stroke (NINDS) continues to support research. For example, the DMRF is able to
provide bridge funding to researchers who study dystonia but are not supported by
NINDS due to a lack of NINDS resources. The DMRF now has an opportunity to help
these scientists pursue their dystonia studies, and is one of multiple patient organizations
that are helping NINDS fund dystonia investigations.
We value our partnerships and continue to seek out opportunities for collaboration
to advance our mission. Our partnership with you, our readers, is as important as our
relationships with any agency or organization. Our drive toward the cure is made stronger
by our connections within and beyond the dystonia community.
Claire Centrella
President
Janet Hieshetter
Executive Director
4
Another Step Toward the Cure
Get Your DMRF Clogs Today
SUMMER 2008
Four-legged Friends Walk For DMRF
“Dogs For Dystonia” Is A Success
The DMRF is proud to
announce the availability
of new awareness clogs.
These clogs have a
non-skid sole and are
lightweight, durable,
and easy to clean. Royal
blue with “Dystonia Medical
Research Foundation” written in white on
an interchangeable strap, these clogs are
available for $25 per pair (US). Price
includes shipping and handling.
Unisex sizes available:
Medium (Ladies 6-9)
Large (Men 9-12)
Order now on the DMRF website under
“Order Brochures & Materials” and then
“Merchandise.” You may also order by
emailing [email protected]
or by phone at 800-377-DYST (3978).
Dystonia Days Summer Sale
Summer 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.dystonia-foundation.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 800-377-DYST (3978)
or email at [email protected].
Be sure to mention that you read about the
sale in the Dystonia Dialogue !
Known for its temperamental weather, the City of Chicago
graced the 1st “Dogs for Dystonia” Chicago Dog Walk with a
perfect spring day. Over 100 people and their dogs showed up
to help raise awareness and achieve a cure for dystonia. Several
teams represented the Chicago movement disorders community
including Dystonia Study Group Chair Cynthia Comella, MD
and a contingent from Rush University Medical Center, and
Cindy Zadikoff, MD of Northwestern Memorial Hospital and
her family.
Cameras from television stations and pre-event publicity brought
new visibility to dystonia and the DMRF. Festivities included
warm-up exercises led by Andrea Metcalf of NBC5's Fitness
Team preceding the walk. Awards were distributed for canine
talents such as “Most Kisses In 15 Seconds” and “Best Dancer.”
The “Best Costume” award was bestowed on Joey, a schnauzer
dressed like Elvis in a pink Cadillac.
Breanna and Carlos Mendez of Rockford, Illinois and their
children Jonathan, Stephanie, and Christian served as the Dog
Walk poster family by appearing on promotional materials and
being a part of the event committee. The family spoke to Dog
Walk participants about their journey with Stephanie’s dystonia
diagnosis and treatment.
DYSTONIA DIALOGUE
5
RESEARCH
Research In 2008
The DMRF is proud to announce the grants, fellowships, and contracts
funded in 2008. The following investigations reflect the DMRF’s commitment
to both basic and translational research.
Stanley Fahn Award
“Unraveling TorsinA Function and Dysfunction”
William Dauer, MD, Columbia University
Dr. Dauer is examining what happens to brain cells
when the dystonia protein torsinA ceases to function
normally. He has proposed a range of studies on the
brains and cultured neurons from mice that either lack
torsinA or only produce mutated torsinA. Dr. Dauer
also suggests that learning more about the function of
proteins with which torsinA interacts will yield clues
about its function, and has incorporated experiments
along these lines into this investigation. Uncovering the
function of torsinA will ultimately provide a target for
new treatments.
is a pioneer in this field and the first to report specific
silencing of the mutant DYT1 gene in cells. This
extension will provide funds to test the intervention
in animal models.
Cure Dystonia Initiative Projects
“Assay Development and Target Validation of
Small Molecule Therapeutics for Dystonia”
Kim Caldwell, PhD and Guy Caldwell, PhD
University of Alabama, Tuscaloosa
In an effort to identify drugs that might be effective for
dystonia, Drs. Kim and Guy Caldwell use a genetically
modified worm called C. elegans to screen for chemical
compounds and existing medicines (already approved by
the Food & Drug Administration for other conditions)
that modulate torsinA and may therefore have therapeutic
potential. The use of the worm not only speeds up the
screening but also lowers the cost of such studies. The
Caldwells have already identified several molecules that
affect the activity of torsinA in C. elegans.
“Screening for TorsinA Interaction-modulating
Compounds”
Michal Zolkiewski, PhD, Kansas State University
Dr. Zolkiewski is developing a new method to screen
for drugs and novel chemicals that might be effective in
stopping the negative effects of mutated torsinA, the
cause of DYT1 dystonia. The idea behind his design is
to ultimately develop a high-throughput assay, in which
thousands of chemicals can be screened simultaneously
at very high speed and extremely low cost.
“Therapeutic RNA Interference for DYT1 Dystonia”
Pedro Gonzalez-Alegre, MD, University of Iowa
This is an extension of a two-year grant awarded to
Dr. Gonzalez-Alegre to study novel approaches to
dystonia therapeutics based on the revolutionary RNAi
(a.k.a. ‘gene silencing’) technology. Dr. Gonzalez-Alegre
“siRNA and Pharmacological Intervention Strategies
for DYT1 Dystonia” (2nd year)
Yuqing Li, PhD, University of Alabama, Birmingham
In this investigation Dr. Li is developing new treatment
strategies for DYT1 dystonia. Dr. Li and his team are
using mouse models to test RNAi to suppress the effects
of the DYT1 mutation known to cause dystonia. The
mice are studied in various behavioral and motor tests
to evaluate the efficacy of the treatment.
Research Grants
“How Does TorsinA Affect Dopamine Release?”
(2nd year)
Aygul Balcioglu, PhD, Massachusetts General Hospital
Separate research efforts have associated the protein
torsinA and the neurotransmitter dopamine with dystonia.
Dr. Balcioglu is examining the connection between the
two. Dr. Balcioglu is examining how normal and mutated
torsinA impact dopamine transport, metabolism, and
storage. Identification of abnormalities in dopamine
signaling may allow for targeting the dopaminergic
RESEARCH CONTINUED ON PAGE 6
SUMMER 2008
6
RESEARCH CONTINUED FROM PAGE 5
system with new treatments, especially since there are
safe and effective drugs that affect dopamine signaling
and are approved for other diseases.
“Correlating Structural and Functional Brain
Abnormalities in Dystonia” (2nd year)
Anne Blood, PhD, Massachusetts General Hospital
In past research, Dr. Blood used brain imaging to show
that people with focal dystonia appear to show two
specific irregularities in basal ganglia brain circuitry.
These observations may reveal important information
about the cause. The objective of Dr. Blood’s current
study is to focus on these apparent circuitry changes in
individuals with cervical dystonia and see if there are
also corresponding anatomical differences. The results
of this research may provide insight into the causes of
focal dystonia and/or suggest possible biomarkers to
assist in diagnosis.
“Function of TorsinA in Cell Polarization”
Gregg Gundersen, PhD, Columbia University
Understanding how the protein torsinA functions
normally in cells—and how mutated torsinA ultimately
results in DYT1 dystonia symptoms—remains a top
priority in the dystonia research community. Dr. Gunderson
proposes that torsinA plays an important role in maintaining the proper structure of cells, a process called
cellular polarity. In this proposal, Dr. Gunderson and
his team will test whether torsinA is required for cell
polarization, how torsinA contributes to cell polarization,
and what proteins torsinA interacts with to regulate this
process. The results gained from this research will help
form the basis for the development of new therapeutic
targets that may be useful for the treatment of dystonia.
“Whole Genome Analysis of Dystonia: Autozygosity
and Copy Number Variant Assessment”
John Hardy, PhD, University College London
To date 16 genes have been associated with dystonia
(DYT1-DYT16) and the underlying genetic mutations
have been identified in seven of them (DYT1-3-5-8-1112-16). Only a percentage of people who inherit dystoniacausing mutations ever develop the disorder. Dr. Hardy
is conducting a whole genome analysis of dystonia.
Whole genome association studies can identify specific
points of variation in human DNA that underlie
particular diseases. Taking a broad view of the genetic
DEFINITIONS
Basal ganglia – An area of the brain that
is implicated in dystonia and associated
with a variety of functions: motor control,
cognition, emotions, and learning. The basal
ganglia are three clusters of neurons (called
the caudate nucleus, putamen, and the
globus pallidus).
Disease mechanism – The biochemical and
molecular changes in cells and proteins that
ultimately lead to dystonia symptoms.
DYT1 gene – Most people with early
onset generalized dystonia have a specific
mutation in the DYT1 gene believed to cause
the disorder. The DYT1 gene provides the
body with instructions to produce a protein
called torsinA.
Primary dystonia – A case in which dystonia
is the only neurological disorder that a person
has, and the cause is either genetic or
suspected to be genetic.
Neurons – The individual cells that made
up the nervous system. Also known as
nerve cells.
RNA interference (RNAi) – A technique
that uses the body’s natural defenses
against viruses to shut down or ‘silence’
disease-causing genes.
Target – The aspect of the disease
process that a treatment addresses,
ideally the disease mechanism.
DYSTONIA DIALOGUE
factors that influence dystonia is central to discovering
and developing the next generation medicines that target
symptoms with increased precision and reduced risks.
“rTMS for the Treatment of Focal Hand Dystonia”
Teresa Kimberley, PhD, University of Minnesota
This proposal will investigate the effectiveness of a
therapy called transcranial magnetic stimulation (rTMS)
in volunteers with focal hand dystonia. Completion of
this proposal will provide important information about
this emerging treatment with exciting possibilities for
persons with all forms of dystonia.
“Structural Basis for TorsinA Function” (2nd year)
John Ladias, MD, Beth Israel Deaconess Medical Center
The precise function of the dystonia protein torsinA
remains unknown, in large part because its threedimensional structure is undefined. This limits our
understanding of the way torsinA interacts with other
proteins and the molecular mechanisms that lead to
symptoms. Dr. Ladias aims at determining the threedimensional structures of normal and mutated torsinA
using a technique called X-ray crystallography. Understanding how torsinA is structured will help scientists
identify targets for potential new therapeutics.
“Molecular Network Abnormalities in Adult-onset
Primary Dystonia”
Mark LeDoux, MD, PhD
University of Tennessee Health Science Center
It is estimated that 10% of individuals with adult onset,
primary focal dystonia have at least one first-degree
relative with dystonia. In addition, focal dystonias are
common in well-described hereditary dystonias (for
example, focal hand dystonia is a common component
of DYT1 dystonia). Dr. LeDoux seeks to identify genes
and molecular pathways associated with the development
of adult onset, primary dystonia. This study may pinpoint
molecular targets for therapeutic intervention in patients
with primary dystonia.
“Tactile Operant Conditioning to Alleviate Focal
Hand Dystonia Symptoms” (2nd year)
Aimee Nelson, PhD, Toronto Western Hospital
People with the focal dystonia called writer’s cramp
experience uncontrollable movements of the hand
during certain types of skilled movements. Scientists
believe that brain areas involved in moving the hands
7
and receiving touch information from the hands are
involved. The goal of Dr. Nelson’s research is to alleviate
symptoms of hand dystonia by implementing an intensive
training treatment that requires patients to respond to
and use touch information. The study will first involve
using several brain imaging tools to identify and observe
the areas of the brain that receive touch information
from the hand. This research will advance the treatment
of focal hand dystonia and assist the design of precise
rehabilitation training.
“Characterization of Striatal Muscarinic Receptor
Function and Their Interplay with Endocannabinoids
in a Mouse Model of DYT1 Dystonia”
Antonio Pisani, MD, University of Rome Tor Vergata
It is believed that dystonia symptoms result from
irregular neuron signals within the basal ganglia of the
brain, and specifically an area of the basal ganglia called
the striatum. In this brain region, a balance exists between
two major neurotransmitters: dopamine and acetylcholine.
Disruption of this balance leads to the development of
dystonic symptoms. The primary goal of this project is
to identify the brain receptors that control the close
relationship between dopamine and acetylcholine at the
striatal level. The results of this study may provide new
insights for improved use of anticholinergic treatment
for dystonia with fewer side effects.
“Characterization of Substrate Interactions with TorsinA”
Phil Thomas, PhD
University of Texas Southwestern Medical Center
In this proposal, Dr. Thomas examines the interaction
of torsinA with two proteins: LAP1 and LULL1.
New potential partner proteins for torsinA may
also be identified to further our understanding of
the function of torsinA and development of novel
treatment for dystonia.
“Modulation of Subthalamic Function
By Muscarinic Acetylcholine Receptors:
Implication in Treatment of Dystonia”
Zixiu Xiang, PhD, Vanderbilt University
Anticholinergic drugs are a group of medications
(including Artane®) that can be extremely effective
at reducing dystonia symptoms. However, the drugs
frequently cause intolerable side effects that limit their
use. Dr. Xiang is investigating a group of compounds
that may mimic the beneficial effects of anticholinergics
RESEARCH CONTINUED ON PAGE 8
8
RESEARCH CONTINUED FROM PAGE 7
without the side effects. The results of these studies will
provide insight into developing new therapeutic agents
that target the appropriate aspects of the basal ganglia
without triggering side effects.
Fellowships
“Function of Frontal and Parietal Association
Cortex in Focal Hand Dystonia”
Leighton Hinkley, PhD
University of California, San Francisco
Individuals with focal hand dystonia often have muscle
spasms at very unique points in time, when the brain is
processing a great deal of information (visual, tactile,
movement, cognitive) in order to perform a highly
complex, coordinated movement such as writing or
playing a musical instrument. Evidence from neuroimaging
studies suggests that the muscle spasms present in these
individuals occur because the brain is struggling to
integrate sensory information with the motor system.
Little is known about how the brains of people with
dystonia process sensory information (such as vision).
This project will examine the part of the brain known to
integrate this information—regions of frontal cortex and
parietal cortex—when patients with focal hand dystonia
and age-matched control subjects perform visually-guided
movements. This project will broaden our understanding
of the neurobiological basis of focal hand dystonia
and contribute to improved rehabilitation and
therapeutic techniques.
“Reduced Striatal RGS9 in an Animal Model
of DYT1 Dystonia”
Jayms Peterson, PhD, Northwestern University
Dr. Peterson is using a mouse model to investigate how a
protein called RGS9 may play a role in dystonia. RGS9
influences how the brain uses a neurotransmitter called
dopamine which has long been associated with dystonia.
These studies may establish the RGS9 protein as a target
for new treatments.
“Identification and Analysis of Binding Partners
for TorsinA and Tor3A” (2nd year)
Gena Stephens, PhD
Washington University School of Medicine
To fully understand torsinA’s function scientists need to
identify proteins that it associates with and acts on,
especially in brain cells. Only a handful of proteins that
bind with torsinA have been identified so far. Dr. Stephens
SUMMER 2008
plans to identify proteins that interact with torsinA and
another very similar protein called tor3A. Dr. Stephens
anticipates identifying binding partners that function in
specific locations within the cell. This information will
provide additional insight into the function of the torsin
proteins and their role in dystonia, and may allow for
the successful design of potential new drugs.
“Identifying Substrate and Functional Locus
of DYT8 in the CNS” (2nd year)
Yiguo Shen, PhD, University of California, San Francisco
Most cases of paroxysmal non-kinesigenic dyskinesia
(PNKD) appear to be caused by a mutation in the
DYT8 gene. The DYT8 gene provides the body with
instructions for a protein called MR1. In this proposal,
Dr. Shen will attempt to determine the function of
MR1, investigate which proteins interact with MR1 in
brain cells, and observe how the mutant MR1 affects
control in mice. The study should uncover the molecular
mechanism of DYT8, contribute to the knowledge of
dystonia, and potentially help develop new treatments.
FYI For Healthcare Professionals
• The European Dystonia Federation
Medical Advisory Board is hosting
“Dystonia Europe 2008” in Hamburg,
Germany October 17-19. This scientific
congress—the first large-scale meeting in
Europe purely on dystonia since 1994—
will have sessions on the latest developments
in clinical features, treatment, and research.
The faculty includes leading dystonia experts
and thought leaders from Europe and North
America. For more information, visit
www.dystonia-europe-2008.org
• A fact sheet entitled Oromandibular
Dystonia for the Dental Professional—
Clinical Implications is available on the
DMRF website (www.dystonia-foundation.org)
under “News & Resources” and then
“Publications & Multimedia.”
DYSTONIA DIALOGUE
UPDATES ON 2007
RESEARCH
Several DMRF grants were
completed in 2007. Below
are brief updates on the
results of two of these
investigations.
Musician’s Dystonia –
Eckert Altenmüller, MD’s
work has revealed that
musicians with focal taskspecific dystonia of the
hand likely have a genetic
predisposition, and that a
significant number of
musicians with dystonia
have family members with
subtle symptoms. Further
molecular genetic studies
are looking for common
gene mutations. Preliminary
results conclude that
musician’s dystonia is
not associated with DYT1
dystonia, but a connection
to the DYT7 gene cannot be
ruled out. The DYT7 gene is
associated with adult onset
focal dystonia isolated in a
large German family.
Cervical Dystonia – In 2006
Susan Fox, MRCP, PhD began
a two-year study hypothesizing
that the drug dronabinol may
effectively treat cervical
dystonia. The study suggests
that a three-week course of
dronabinol did not improve
dystonia symptoms. It is
unknown if a longer course of
treatment might be beneficial.
The drug caused few side
effects and may have an
application to treat dystoniarelated pain.
9
Investing In People, Investing In Research
One of the most important functions of DMRF science funding is to provide
‘seed money’ to emerging investigators that is used to segue their research into
more substantial funding from the National Institutes of Health and other
entities. The science program is also designed to attract young investigators to
dystonia research and help propel them into careers based in this field. The
DMRF is proud to provide updates on just a few exemplary investigators who
are contributing significantly to research since first partnering with the DMRF.
Epidemiological Information
Caroline Tanner, MD, PhD came to the DMRF as a grant applicant in 2000.
The DMRF funded her proposal to begin collecting much-needed data on
the incidence and prevalence of various dystonias. She has established herself as
a movement disorders expert with special interest in epidemiologic investigations.
At present, Dr. Tanner is Director of Clinical Research at the Parkinson's
Institute in Sunnyvale, California and her dystonia epidemiology study is ongoing
through support from the National Institutes of Health. She served on the
Medical & Scientific Advisory Council in 1999-2003.
Experimental Treatments
Pedro Gonzalez-Alegre received his MD degree at the University of Malaga,
Spain in 1996. In 2002 he was awarded a DMRF fellowship as a Postdoctoral
Fellow in the Department of Neurology at the University of Iowa. Now an
Assistant Professor of Neurology at the same institution and still supported by
the DMRF, he has established himself as a trailblazer in exploring gene silencing
as a revolutionary new dystonia treatment and was invited to join the MSAC in
2006. Studies in his lab focus almost entirely on DYT1 dystonia and its implications for all dystonias. See page 5 for a summary of his 2008 DMRF grant.
International Research
Antonio Pisani, MD, a neurologist in Rome, Italy, was awarded his first DMRF
grant in 2005. In 2006 he was invited to discuss his work with the Medical &
Scientific Advisory Council. Since that time, he organized an international
medical conference for scientists and physicians in 2007 entitled “Scientific
Update on Dystonia,” and a follow-up event is planned for 2009. In addition to
treating patients, Dr. Pisani is engaged in cutting-edge research on specific brain
receptors and dystonia. See page 7 for a summary of his 2008 DMRF grant.
Care & Research For Childhood Dystonias
The DMRF first got acquainted with Terence Sanger, MD, PhD when he
won the 2000 New Millennium Young Investigators Award while a Clinical
Fellow in the Movement Disorders Unit at Toronto Western Hospital. Since
that time he has served as Director of the Pediatric Movement Disorders Clinic
at Stanford University and in 2001 established California’s only research
laboratory to study movement disorders in children. There are relatively few
pediatric movement disorder specialists, and Dr. Sanger quickly established
himself as such both in terms of caring for patients and advancing research.
He was invited to join the Medical & Scientific Advisory Council in 2004.
SUMMER 2008
10
ADVOCACY
Dystonia Advocacy Day 2008
Volunteers Unite In Washington
On April 29, volunteers from across the country gathered in
Washington, DC for an afternoon of legislative advocacy training.
The 80-plus volunteers represented the organizations that make up
the Dystonia Advocacy Coalition (DAC). The mission of the DAC
is to speak with one voice to Congress
and government agencies for
advocacy issues affecting the
dystonia community.
President Dale Dirks and Dane
Christiansen of the Health and
Medicine Counsel of Washington
provided the advocacy training.
Kimberly Kuman, Executive
Director of the National Spasmodic
Dysphonia Association, introduced
the keynote speaker, Christy Ludlow,
PhD, Chief of the Laryngeal and
Speech Section, National Institute
of Neurological Disorders
and Stroke.
The following day, the DAC
honored Congressman Jim Walsh
of New York with the 2008
Distinguished Public Service Award.
Congressman Walsh was recognized
for his leadership and continued
support of the dystonia community
and our efforts to have research
dollars appropriated through the
Department of Defense.
Volunteers spent the afternoon
of April 30 visiting Congressional
offices and educating legislators
on the needs and concerns of the
dystonia community.
Melissa Rentfrow, Maddie Paolero (seated),
and Maddie’s assistance dog Reno met with
Congressman Patrick J. Kennedy of RI.
Rita Molnar is one of several
volunteers who traveled from
NJ to participate in Dystonia
Advocacy Day.
Members Of The
Dystonia Advocacy
Coalition
• Benign Essential
Blepharospasm
Research Foundation
• DySTonia, Inc.
• Dystonia Medical
Research Foundation
• National Spasmodic
Dysphonia Association
• National Spasmodic
Torticollis Association
Vice President of Public Policy Rosalie
Lewis honored Congressman Jim Walsh of
NY on Advocacy Day.
DYSTONIA DIALOGUE
11
Bringing Our Stories To Capitol Hill
My Experience At Dystonia Advocacy Day
GINA Here To Stay
By Jennifer Heil, Lexington, Kentucky Dystonia Support Group Leader
President Signs New
Civil Rights Legislation
The energy of the Dystonia Advocacy Coalition (DAC) was in the air
when my husband Nick and I entered the lobby of the Hotel Palomar
in Washington, DC. Before we even checked in, I saw the familiar face
of Leadership Chairperson
Ann Lebrun, whose
enthusiasm and warm
welcome set the tone
for the next two days.
I have generalized dystonia,
and Nick is a major part of
my support network. Nick
has
gone to many support
Jennifer Heil visited Congressman John
group
meetings and has
Yarmuth of KY on Advocacy Day.
heard other support group
members share their stories about living with dystonia. We traveled to
Washington to bring these stories to our members of Congress.
Nick remarked that he wished he had reviewed the materials we received
a little more thoroughly. Our friends on the DMRF staff assured us that
by the end of the day, we would be well-prepared (and well-fed!). I told
him that by the evening's end, he would be ready to visit Capitol Hill
without any reservation.
It was exciting to meet people from the DAC organizations and work
as a team on our visits to the Congressional offices. When the Meige’s
syndrome revealed itself on my face during our visit with Scott Raab in
Senator Mitch McConnell's office, my teammates Ellaweese McClendon
and Linda Schnackenberg filled in where my crackling voice left off. Nick
did the same during our visit with Congressman John Yarmuth, finishing
my broken sentences.
Participating in this year’s Advocacy Day gave me the opportunity to urge
our legislators to become aware of what we live with every day, and what
we need for a better quality of life and ultimately for a cure.
I realize that not everyone is able to travel to Washington for Advocacy
Day, but we can also advocate from our own homes by emailing and
phoning our Senators and Representatives. Please take time to learn about
the message DAC is sending to Congress and how you can help. I am
grateful to have participated in this year’s Advocacy Day and encourage
others to get involved as well.
In April the Senate passed the
Genetic Information Nondiscrimination Act (GINA/ S.358),
approving by unanimous consent
an amended version of the bill
(H.R. 493) that previously passed
in the House of Representatives.
President George W. Bush signed
this bill into law on May 21.
GINA is a piece of civil rights
legislation designed to protect
an individual’s genetic information
from misuse by employers and
insurers, and thereby freeing
families at risk for inherited
disorders to take advantage of
genetic screening without fear
of the information being used
against them.
The passing of GINA is a special
victory for the dystonia community.
This was one of the core concerns
around which the DMRF Advocacy
Program was formed, and an issue
for which dystonia advocates have
been fighting ever since. The DMRF
extends a heartfelt thanks to all
dystonia advocates for the years
of hard work it took to get this bill
passed. GINA is a victory for the
dystonia community and all
individuals affected by genetic
disorders.
12
C A N D I D K ID S
Young People
Tips That Work For Me
Meet Jimmy
By Grace VanZoeren
Teachers Help Student Learn at Home
ha
Grace s
tip
res her
s.
I’m 16 and my dystonia is in my
right hand. It shows up in other
places too, but mostly it affects
my hand. My teachers know
about it, and a lot of them are
pretty cool about not making
me take a ton of notes. Tests
are the worst because of the
stress factor added to the
writing. So I sometimes have
to ask for help like near the
end of a long geometry test.
Other helpful stuff:
• I use a mechanical pencil. It takes less effort to write.
• I use the fattest pen I can find so I don’t have a
tight grip on it.
• I have a writing implement thing that my neurologist
suggested. It looks strange, but it does help.
• My mom helps with writing homework because I am
most likely to have problems at the end of the day.
• I type whatever I can.
The medicine I take makes me feel tired, and at the
start of taking a new med it takes time for my body to
get used to it. Not taking meds isn't an option for me.
Life was much harder without it. Dystonia was taking
up too much of my life. Now it really doesn't bother
me. I'm loving life and living it to the fullest.
I’m a cheerleader and was captain last season. I love
to sing in the school choir. I also do lyrical dance. I
know my limits, and I don’t try to push them. I listen
to my body, and I think I have figured out how to be
pretty happy.
Jimmy Koenig is 16 years old and lives in Boca Raton,
Florida. He has secondary dystonia that doctors
believe was caused by a brain tumor. Jimmy also
has cerebral palsy and autism. He loves all types
of music. One of his favorite things to do is to
make funny noises that no
one else in the family can
make. He has a brother
Michael and a sister Amy.
He also has a dog
named Penny.
Jimmy cannot attend
school, but he is getting
his education.
Miss Cin
dy tea
at his h ches Jimmy
ouse.
Miss Cindy Karttunen
comes to Jimmy’s house two or
three times a week to teach his lessons. They do
projects together. He made his mom a Mother’s Day
card with Miss Cindy’s help.
Miss Tina Duchon is Jimmy’s speech teacher. She
comes to the house once a week to teach him sign
language. Even though he cannot speak, he still
makes jokes and has a sense of humor.
In between visits from his teachers, Jimmy’s mom Lin
works with him on assignments.
Jimmy doesn’t get a summer break! Summer school
teachers will come to his home until school starts
again in August.
Education Resources For Parents
• National Dissemination Center for Children with Disabilities: www.nichcy.org
• US Department of Education: www.ed.gov
• State & Municipal Board of Education websites
13
with Dystonia
Juggle-In Celebrates
The Gift Of Movement
Annual Exhibition Supports DMRF
FYI For Parents
• Jimmy’s teachers are homebound tutors
from the public school system.
• Jimmy has an IEP (Individualized Education
Program). In his case, a physician’s letter
was an important part of establishing
that a home program was required.
• An IEP is a legally binding document that
spells out exactly what special education
services a child will receive and why.
• Individual school districts must assume
the costs for any services included in a
student's IEP. The kinds of services that
school districts can afford vary
significantly.
• Under federal special education law,
schools are required to give students the
chance to make educational progress, but
the law does not require them to educate
children to their absolute highest level or
maximize their potential.
• Some children with dystonia frequently
miss school because of treatment or
complications. If that's the case for your
child, check into homebound tutoring, a
special service provided by school
districts.
• Schools administer homebound
programs in different ways, so it is
important to know exactly what your
school can provide. ‘Intermittent’
homebound tutoring may be an option
for a child who is temporarily unable
to attend school.
The Rochester Institute of Technology (RIT)’s
31st Annual Spring Juggle-In took place April
18-20, 2008 and attracted over 400 jugglers
from around the world. The Juggle-In is one
of the biggest
juggling
exhibitions
in the world,
and since
2001 proceeds have benefited the DMRF.
Professional juggler Ted Baumhauer, who
serves as advisor to the RIT Juggling Club,
was inspired to pair the Juggle-In with the
DMRF by his friendship with Vice President
of Public Policy Rosalie Lewis and her family.
Days prior to the Juggle-In, Ted and his
daughter Molly appeared on WROC-TV’s
News 8 Now program to promote both the
event and dystonia awareness. The station
sent a camera to the event and caught up with
event organizer Jeff Peden, who has juggled
professionally for over 20 years and has been
a juggling instructor at RIT since 1999. “As
jugglers, we depend on movement to do what
we love—what could be better than supporting
a foundation that does research for people
who have been robbed of their movement?”
he explained.
Over the years, the RIT Juggle-In has raised
over $17,000 for dystonia research. “This is
such a fun, creative kind of event that reaches
a whole new audience of people for us,” says
DMRF President Claire Centrella. “The
awareness is wonderful, and we’re honored
that the RIT Juggling Club is helping us
fund research.”
SUMMER 2008
14
PEOPLE ON THE MOVE
The DMRF is fortunate to have such a dedicated network of volunteers. DMRF volunteers exercise
their energy, creativity, and desire to make a difference by promoting awareness, fundraising for research,
and supporting others with dystonia. Every effort is meaningful. Contact us and let us know what
you’re doing in your community. We look forward to hearing from you, and thank you for all you do!
and coding specialists. She also
uses the web to promote awareness
by posting information on dystonia
and publishing candid video diaries.
The Central Florida Support Group
met in January. Anette Nieves, MD,
Medical Director, Movement Disorders
Clinic in Ocala was the guest speaker
(center) and is pictured with Leader
Anna DiPleco (right) and Co-leader
Grady Fisher Greaves.
Brian Alman, PhD spoke to the
Support & Advocacy Group of San
Diego County on mind/body healing
in March. Over 50 people attended
the meeting. Pictured from left to
right: Dr. Alman, Leader Martha
Murphy, and group members Dave
Sempsrott and Richard Parcel.
Amy Behar, member of the Greater
Dallas Dystonia/Dysphonia Support
Group works at a technical college,
and each year she conducts a lecture
on dystonia for the students who are
studying to be medical assistants,
pharmacy techs, or medical billing
Beth Farber was one of the Chicagoarea volunteers who represented the
DMRF at the NBC5 Healthy Lifestyles
Expo in Chicago. Beth spoke on
camera with NBC 5 medical expert
Mary Ann Malloy, MD.
In April, Public Relations Committee
Member Paula Schneider represented
the DMRF at the opening night of
Crooked, an off-Broadway production
whose main character has dystonia.
The DMRF partnered with the Women’s
Project theatre to educate audiences
about the disorder.
Paula and Don Gates hosted the
“Return to Margaritaville” Dance
& Fundraiser in April. Guests wore
Hawaiian-style leis and socialized
to music by Jimmy Buffet. The event
included a silent auction and raffle
that featured a Deluxe Red Sox Gift
Basket including two game tickets
to see the Red Sox host the Yankees
at Fenway Park in July.
Nicknamed “The Texas Twister”
for her refusal to let dystonia get
in her way, Vickie Ann Hutchinson
is determined to improve dystonia
awareness in her community. As
a member of the Greater Dallas
Dystonia/Dysphonia Support Group,
she has had several articles printed
in local papers, started a website,
and distributed information to city
offices in Tarrant County, Texas.
The DMRF hosted a Community
Education Forum in Cincinnati
featuring George Mandybur, MD,
Associate Professor of Neurosurgery
and Director of the Division of
Functional and Stereotactic Neurosurgery at University of Cincinnati,
and Andrew Duker, MD, Associate
Professor of Neurology at the University. Medtronic representative
Beth Mitchell attended.
The Ottawa Dystonia Support
Group held their annual Walk and
Wheel fundraiser on Parliament Hill
to benefit research. Over the past
ten years the group has raised over
$60,000. The Prime Minister of
Canada sent a personal message
that Leader Stu Higdon read to
attendees.
The Birmingham, Alabama Support
Group launched a series of awareness activities: Governor Bob Riley
proclaimed the first week in June
DYSTONIA DIALOGUE
2008 as Alabama Dystonia Awareness Week, press releases about
the Governor’s proclamation were
distributed to area newspapers,
bookmarks were distributed to
150 public libraries, and a table
top exhibit was displayed at
community events.
15
Dena Sherry, whose daughter Jana
was diagnosed several years ago,
ran her first marathon to raise
pledges for the DMRF. The Sherry
family traveled from California for the
Eugene Marathon in Oregon. Dena
writes, “The marathon was amazing,
exhilarating, hard, and painful.” She
raised $4,000!
Julie Zaia ran the 2008 Walt Disney
Marathon in honor of her sister
Stephanie Zaia and to raise funds
for the DMRF. Julie designed a
dystonia awareness t-shirt that
she wore during the race.
Tina Maslak-Slater of Jordan, New
York organized a combined Plant/
Bake Sale on May 10 and raised
$300 for research. Diagnosed in
2005 with cervical dystonia, Tina’s
inspiration to make a difference are
the children who are affected. She is
already working on another community
event scheduled for this fall. Pictured
left to right: Jamie Overend, Tina
Maslak-Slater, Melissa Slater, Abby
Moynihan, and Ashley Dening.
Houston Area Support Group Leader
Jennifer Hunt made a friendly wager
with American
Le Mans
Series racer
Johnny
O'Connell:
for every
race he
loses, he
must make a donation to the charity
of Jennifer’s choice. If he wins,
Jennifer must return the favor.
Johnny recently upped the ante by
surprising Jennifer with a $200
check made out to the DMRF.
Johnny has also donated autographed t-shirts and a hat for
Jennifer to use in an upcoming
auction to benefit the DMRF.
Does It Mean To Be Diagnosed
With Dystonia?”
The Hamilton Support Group’s Walk
and Wheel took place in June and
attracted approximately 90 people.
The group is led by Laurie Bell and
Rose Gionet.
Student Kelsey Carpenter of New
Jersey organized a “Dress Down
Day” fundraiser
at her school,
Our Lady of Mercy
Academy. For
a $3 donation to
the DMRF, students
were permitted to
wear clothing other than their school
uniforms. Kelsey also wrote a paper
about dystonia and the DMRF for
Sister to read over the loudspeaker.
The DMRF hosted “Dystonia: An
Overview and Update” in Irvine,
California on May 4. This educational
event featured movement disorders
expert Neal Hermanowicz, MD;
neurosurgeon Devin Binder, MD, PhD;
and physical therapist Mary HudsonMcKinney, DPT. Brain Bank Liaison
Martha Murphy served as emcee
and provided a patient perspective.
The Dystonia Health Fair received
high marks and had an excellent
turnout. Over 80 participants and
12 experts in their field came to
Rush University Medical Center in
Chicago to learn from each other.
Leo Verhagen, MD, PhD provided
the keynote address on “What
In June, Danbury High School students
hosted the 2nd Distance for Dystonia
Walk-a-thon in Connecticut. Student
Charly Almonte organized the event
with assistance from fellow students
Michael Bovin and Kevin Holmes.
Pictured from left to right are
Michael Bovin, Joan Mandzuk,
Paula Schneider, Timothy Insogna,
Eric Mandzuk, Charly Almonte,
and Kevin Holmes.
We want to
hear from you!
Please send us news and
photos of your activities.
SUMMER 2008
16
PEOPLE
A Wicked Good Time
Broadway Stars Perform DMRF Benefit
It was a chilly night but hearts were warm in East Rutherford, New Jersey
at the first annual Curtain Call For A Cause on May 19. The event, held at
the Landmark Banquet Hall, featured an evening of musical entertainment
starring Anthony Galde who appears in Wicked on Broadway. Anthony
generously donated his time and talents and inspired 20 of his Broadway
colleagues to do the same. The result was
a magical occasion for 130 friends and
supporters of the DMRF who were
treated to a mosaic of songs ranging from
“Bring Him Home” from Les Miserables
to “When You’re Good to Mama” from
the show Chicago. The performances
captured the full spirit of the American
musical while raising much needed
research dollars.
In addition to the performance,
Broadway star Anthony Galde
attendees were treated to hors d’oeuvres,
shared his precious time and
ample talents on behalf of
cocktails, and a scrumptious dessert bar.
DMRF. He is seen here with
Intermission featured a live auction that
President Claire Centrella.
included several sets of tickets to Jersey
Boys and Wicked, and the opportunity to win a flat screen television by
playing an interactive game of chance called “Heads or Tails.” Longtime
DMRF supporters the Nathans won the television and generously donated
it back to the DMRF.
Committee member Sandra Nathans
and children Lydia and Jack show off
the event program.
Committee member Dara Reynolds
was joined by daughter Carly and
mom Barbara Switzer.
Special thanks to the event committee members who included Judy Bozza, Sandra Nathans, Dara Reynolds, and
Michael Shine. Mark your calendars—the 2nd Annual Curtain Call For A Cause is scheduled for April 20, 2009.
Community Quotes
“Fundraising isn’t an easy thing for everyone, but if people
could see the scientists and how dedicated everyone in the
DMRF truly is, then everyone would want to help raise money.”
~ Paula Gates, Network Volunteer, after attending the
2008 Board of Directors meeting
DYSTONIA DIALOGUE
17
RESEARCH
A Gift That Keeps On Giving
The Brain Donor Program Supports Research
By Martha Murphy, DMRF Brain Bank Liaison
Each of us has the opportunity to
make a difference in the world.
Some of us choose to be organ
donors and give the gift of life to
others. Another way to make an
impact, especially for those of us
who have dystonia, is to enroll in
the Brain Donor Program. As the
DMRF Brain Bank Liaison and
someone who has lived with
cervical dystonia for 32 years, I
know that the answers to this
mystifying disorder cannot come
soon enough. To make important
strides, researchers need to study the
brain tissue of both dystonia-affected
as well as non-affected individuals.
The DMRF partners with the NICHD
Brain and Tissue Bank (BTB) for
Developmental Disorders at the
University of Maryland in Baltimore.
My role as the Brain Bank Liaison is
to facilitate the registration process
and provide information to potential
donors. I work closely with Melissa
Davis, Research Project Coordinator
at the BTB.
brain tissue can crucial answers
be found.
Melissa Davis and Robert Vigorito
represented the NICHD Brain and
Tissue Bank at a recent Society for
Neuroscience Conference.
ARTICLE AT A GLANCE
• Advance registration is
important to becoming a
brain donor.
• It is free to register.
• Brain donation does not
alter the appearance of
the individual in any way
or interfere with funeral
or memorial services.
• It is possible to be both
a brain donor and an
organ donor.
The BTB is a tissue resource center
established by the National Institute of Child Health &
Human Development (NICHD). The BTB serves as an
intermediary between people who wish to donate tissue
for research upon death and the research community.
The BTB safely stores the tissue, and it is made available
to qualified scientists who request it for research.
Dystonia research requires a detailed analysis of proteins,
DNA, RNA, and neurotransmitters in the brains of
affected individuals. Only through the study of donated
Participation in the brain donor
program is free. Brain donation
does not interfere with planned
funeral or memorial services or
alter the outward appearance of
the individual in any way. You
can be both a brain donor and
an organ donor if you wish.
Advance registration is strongly
advised, and it is important for
anyone considering becoming a donor
to let his/her wishes be known to
family members so that they can be
carried out when the time comes.
Tissue collection must occur within the
first 24 hours and, preferably, within 8
hours after death. Brain donors receive
a donor registration card as well as a
refrigerator magnet with the phone
numbers to contact when death is
imminent or has occurred. These
numbers are staffed 24 hours a day,
7 days a week.
To learn more about the Brain Donor
Program, please contact Martha at
[email protected] or 800-377-3978.
You may also contact Melissa Davis at the BTB at 800847-1539 M-F, 9-5 pm EST or anytime in the event of
an emergency. If you contact the BTB directly about
becoming a donor, please inform them that you are
affiliated with the DMRF. To learn more about brain
donation, visit www.dystonia-foundation.org or
www.btbankfamily.org
Become a brain donor and make a difference!
SUMMER 2008
18
FOCUS ON FOCAL DYSTONIA
Tasks & Triggers
NINDS Lab Focuses On Focal Dystonia
The National Institute of Neurological Disorders & Stroke (NINDS) is the primary federal agency for conducting
and supporting medical research on diseases that affect the nervous system. Mark Hallett, MD heads both the Medical
Neurology Branch and its Human Motor Control Section. Focal dystonia is the primary focus in Dr. Hallett’s laboratory.
“Our activities are more than 50% dystonia,” he explains. “We’re interested in the disorder for its own sake—for
helping patients get better—and it also raises interesting questions about how the brain produces movement.”
ARTICLE AT A GLANCE
• The Human Motor Control
Section at the National
Institutes of Health
dedicates over 50% of
all research activities
to dystonia.
• Scientists believe focal
dystonias are caused by
a combination of genetic
factors and environmental
triggers.
• While symptoms of
focal dystonias vary and
can be precipitated by
different triggers, the
genetic component is
likely the same or
similar for all forms.
Focal dystonia is defined as dystonia that remains isolated to a particular body
area. Dr. Hallett explains that there is strong evidence that all focal dystonias are
related: “We believe focal dystonias are caused by a combination of multiple
factors—a genetic background and an environmental trigger.”
Dr. Hallett explains that the genetic component—which is likely a mutation in
one or more genes—lays the foundation for certain individuals to be susceptible
to focal dystonia. Outside factors may then trigger specific symptoms. Scientists
have identified some of these triggers. “In blepharospasm, eye disease can be a
trigger,” explains Dr. Hallett. “Spasmodic dysphonia can be triggered by a throat
irritation such as infection. Repetitive movement is one kind of trigger for focal
hand dystonia.”
Musician’s dystonia is a well-known model of dystonia that appears to be prompted
by the repetition of specific movements over a period of time. A similar kind of
dystonia is seen in athletes and other populations whose careers or pastimes require
prolonged practice of highly specific movements. Research is confirming that
musician’s dystonia appears to have a genetic component, and scientists are actively
pursuing specific genes and mutations. Dr. Hallett explains that individuals with
various focal dystonias frequently have affected family members, which strongly
points to a genetic predisposition.
Some individuals who develop dystonia associated with repetitive movement only experience symptoms when performing
a very specific task. An example of this is the horn player whose symptoms include a loss of control of the embouchure
muscles required to play the instrument but do not interfere with speaking, eating, or other activities of the mouth.
Other individuals first notice the symptoms in the context of a specific activity and then find that the dystonia
progresses into other specific tasks that require use of that body part. For example, the tennis player who first notices
the dystonia in the dominant hand while playing tennis and eventually develops difficulty writing with the hand. But
this individual may have no problems using a fork or toothbrush.
Dystonias that only surface when a person does a specific task is aptly called ‘task-specific’ dystonia. “Task specificity
is a fascinating issue,” says Dr. Hallett. “It presents the probability that the brain is organized by tasks—because if the
brain is not built on tasks, how can it fall apart by tasks?”
DYSTONIA DIALOGUE
What Are The
Focal Dystonias?
Focal dystonias typically
begin in adulthood and
affect a specific area of
the body. Individuals may
develop more than one
focal dystonia.
The most common focal
dystonias include (listed
alphabetically, not in order
of prevalence):
Blepharospasm
Dystonia that affects the
muscles of the eyelids
and brow
Cervical dystonia
(spasmodic torticollis)
Dystonia that affects the
neck and sometimes the
shoulders
Hand dystonia
(writer’s cramp)
Dystonia of the fingers,
hand, and/or forearm
Laryngeal dystonia
(spasmodic dysphonia)
Dystonia that affects the
vocal cords
Lower Limb Dystonia
Focal dystonia of the leg,
ankle, or foot
Oromandibular dystonia
(cranial dystonia)
Symptoms include forceful
contractions of the face,
jaw, and/or tongue
19
Dr. Hallett’s lab conducts studies that investigate how dystonia originates in
the brain as well as clinical trials to test treatments. He says, “We always need
volunteers. We especially need patients with focal hand dystonia, and we have
studies in blepharospasm and cervical dystonia as well.”
A list of some studies from Dr. Hallett’s lab that are actively recruiting volunteers
is available by scrolling down at: http://neuroscience.nih.gov/Lab.asp?Org_ID=72
For all dystonia studies at the National Institutes of Health (NIH), go to
www.clinicaltrials.gov/ct2/search and search “dystonia.”
Dr. Hallett obtained his AB and MD at Harvard University, had his internship
in Medicine at the Peter Bent Brigham Hospital, and his neurology training at
Massachusetts General Hospital. He had fellowships in neurophysiology at the NIH
and in the Department of Neurology, Institute of Psychiatry in London. Before coming
to NIH in 1984, Dr. Hallett was the Chief of the Clinical Neurophysiology Laboratory
at the Brigham and Women's Hospital in Boston and Associate Professor of Neurology
at Harvard Medical School. His research activities focus on the physiology of human
voluntary movement and the pathophysiology of movement disorders.
Volunteers Needed For Focal Hand Dystonia Study
An experimental treatment for focal hand dystonia/writer’s cramp is currently
being conducted at the University of Minnesota in the Department of Physical
Medicine and Rehabilitation. This study involves non-invasive stimulation of the
brain using repetitive transcranial magnetic stimulation (rTMS). The team at the
University of Minnesota is further investigating the technique to more fully
understand the therapeutic potential of rTMS in people with focal hand dystonia.
This is a DMRF-funded study—see page 7 to read a summary.
Volunteers between the ages of 18-65 that have experienced activity-specific
movement control problems are being sought to participate. If you are interested
in receiving more information, please contact Teresa Kimberley, PhD, PT at
612-626-4096 or [email protected]
Genetic Researchers Need Your Help
A collaborative team from Beth Israel Medical Center and Mount Sinai School
of Medicine is conducting a study aimed at finding dystonia 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.
For more information contact:
Deborah Raymond, MS
Beth Israel Medical Center
Phone: 888-228-1688 or 212-844-6053
Email: [email protected]
SUMMER 2008
20
FOCUS ON FOCAL DYSTONIA
A Tough Running Mate
DMRF Member Finishes 41st Boston Marathon
In 1967, Ben Beach was a high school senior listening to coverage of the Boston
Marathon on the radio. The weather in Boston was 35 degrees and rainy—pretty
miserable conditions for a 26-mile race. “I thought: What a crazy thing to do,”
explains Ben. “Then I thought: I’d love to do that! So I did.”
In 2008, Ben completed his 41st consecutive Boston Marathon—the second longest
streak on record. He estimates that it’s the sixth Boston race with dystonia as his
uninvited running partner.
Ben Beach holds the second
longest streak for consecutive
Boston Marathons.
Modest about his accomplishments, Ben admits it bothers him that his running times
no longer reflect the level of performance he once enjoyed. “It’s satisfying to keep the
streak,” he says, “but I didn’t feel like I was running a marathon. I was going so slow
I could have walked.”
Dystonia began to surface in
Ben’s left leg in 2002. “It felt
like my legs had no drive in them,” Ben explains. He developed
a limp with no pain. Over the years, the symptoms progressed to
the point that the left foot kicked the right shin as he ran, and
the limp began to appear when he walked.
In 2008, Ben completed his 41st
consecutive Boston Marathon—
the second longest streak on
record. He estimates that it’s the
sixth Boston race with dystonia as
his uninvited running partner.
After consulting numerous doctors, Ben was diagnosed with
focal leg dystonia at the National Institutes of Health. When
one of his physicians showed Ben a journal article about dystonia in runners authored by a movement disorder specialist
at Baylor College of Medicine in Texas, he traveled there for a consultation. The appointment at Baylor confirmed the
diagnosis and botulinum toxin as the logical line of treatment.
Over the years, Ben has gotten a significant amount of attention from the public and media because of his remarkable
streak. Since dystonia entered his life, he has used opportunities to speak about running the Boston Marathon as an
opportunity to talk about dystonia. “It’s so important to make more people aware, to know that information is out
there,” he says.
“I’d love to be able to run the way I used to run. I miss it. It’s not fun clunking along. But it could be a lot worse,”
says Ben. “I was lucky to have those years I did.”
Although leery that dystonia will continue to limit the amount of training he is able to do, Ben is not quite ready to
give up the streak. “I’ll go back next year,” he says.
DYSTONIA DIALOGUE
21
FOCUS ON FOCAL DYSTONIA
Getting A Grip On Dystonia
Tennis Pro Works Around Hand Symptoms
Like so many others who develop dystonia as adults, Susan Boyer describes the
earliest signs of her dystonia as a vague sensation that something wasn’t quite
right. “My arm started feeling funny,” she says, “but at first I didn’t think too
much of it.”
By the age of 10, Susan was playing tennis every day. Throughout her junior
career, she was a top ranked player in Florida and earned national rankings as
well. A tennis scholarship to Florida State University spring boarded her into
the Professional European Tennis Circuit. After a time, she began to focus
on a career in software engineering but continued to play in Senior Circuit
tournaments for competitors over the age of 30. She has since been ranked in
the US top ten—including number one in Florida—for most of the past 15
years. At one point, she held a World Ranking of #7 in her age group. Susan
is currently third in the nation in the 45 and over age group.
The dystonia began as tightness in her right shoulder that made her serve
difficult to control. The symptoms progressed throughout the years to affect
more of her tennis playing and began to affect her handwriting. She taught
herself to write left-handed and underwent a battery of medical examinations
and tests in search of a diagnosis. She was finally diagnosed in 2002 at the University of Miami with focal dystonia
of the arm and hand. Botulinum toxin was recommended as a course of treatment, but to date Susan has not yet had
injections. The dystonia presents itself when she plays tennis and when she writes, and she has found ways to work
around it. “I’m able to function,” she explains. “I’d be a better tennis player without dystonia, but I’m able to compensate
and do well.” Ironically, when Susan writes with her non-affected left hand, the dystonia symptoms surface subtly in her
right hand. This is a phenomenon known as ‘mirror dystonia’ and is seen in some individuals with focal hand dystonia.
Tennis pro Susan Boyer developed
focal dystonia in her right arm
and hand.
Susan’s dystonia is selective about when and where it surfaces. Her most predictable symptom is a tension and loss of
control in her shoulder immediately before she serves. If she goes through the motion of the serve, for example in her
living room, the symptoms stay away. But if she is on a tennis court and has the intention to complete the serve and
hit the ball, the dystonia activates.
“It’s frustrating at times—to miss a shot because my arm wigged out. And I’m sure my movements may look a little
different,” says Susan, “but the other players don’t know about the dystonia. I haven’t discussed it with them.”
2008 has been a gratifying year for Susan competitively, including winning her second National Championship at
the Clay Court Championships in Houston. At that tournament she won the doubles title and placed third in singles.
She is investigating participating in a clinical trial and contributing to research. She has not ruled out botulinum toxin
or other treatments, but for now the progression is slow and she is content to work around the symptoms. “I’ve had
to alter my timing, change my serve, and I hold my arms differently, but I’ve gotten used to it,” she says. “Most of
the time I don’t think about it.”
22
SUMMER 2008
BOTOX Patient Assistance™ Program
Allergan, Inc. has an assistance program in place to help eligible patients
gain access to BOTOX® (botulinum toxin type A). The BOTOX Patient
Assistance™ Program features:
• New eligibility requirements
• A simplified application process
• A tollfree telephone number for customer service
• A new website that patients can visit for program information
and an application
The BOTOX Patient Assistance™ Program provides BOTOX® vials to
patients who are uninsured or underinsured, residents of the United States or
Puerto Rico, have income less than or equal to 300% of the federal poverty
level, and have a confirmed diagnosis.
To receive support, patients must apply and demonstrate that they meet
the eligibility requirements. For additional information on eligibility requirements or the application process please visit the website at www.BotoxPatient
Assistance.com or call the hotline at 800-44-BOTOX, Option 6.
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 patient, 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. 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.
THE ANSWER
By Kathie Stehr
Oh! I recognize that look.
The questioning eyes,
The furrowed brow.
You are thinking,
"What will she do?"
"Will she fall apart?"
"Will she have a fit?"
No worry, my friend.
We bend.
We twist.
We jerk.
We shake.
But the truth is,
we just don't break!
Kathie Stehr, RN has lived
with symptoms of cervical
dystonia with tremor since
the 1980s. She began
writing as a way to cope
with her disorder. She lives
in Georgia, and is an active
dystonia volunteer.
Seeing Double?
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.
DYSTONIA DIALOGUE
23
Additional BOTOX® Website
Features To Make Life Easier
If you or a loved one have been prescribed botulinum
toxin type A, particularly for cervical dystonia, you
can find helpful resources and information at
www.botoxmedical.com. The website includes an
easy-to-use
physician locator
tool and a link to
a comprehensive
BOTOX®
reimbursement
solutions site.
Many insurance
plans as well as
Medicaid and
Visit www.botoxmedical.com for
Medicare cover
information and resources about
the cost of
BOTOX® (botulinum toxin type A)
BOTOX®
treatments for certain conditions. If you are receiving
BOTOX® therapy or considering it with your doctor,
you may have some concerns about insurance coverage.
The BOTOX® reimbursement solutions program was
created to help you and your doctor with questions,
claims, and paperwork for reimbursement.
To learn more about the BOTOX reimbursement
solutions program, go to www.botoxmedical.com
and look for the “Insurance Coverage” heading on the
lower right side of the homepage and click “learn more.”
(You can also go directly to www.BOTOXReimbursement
Solutions.com)
®
To use the “Find a Doctor” physician locator—
positioned on the lower left corner of the homepage—
simply enter your zip code and desired search radius
(10, 25, or 50 miles) to locate an experienced injecting
physician in your area. The physicians in the network
are trained to administer BOTOX® therapy as well as
provide proper care and answer any questions you might
have pertaining to therapeutic treatment for select
neurological conditions. When you click on the details
of a specific physician you are interested in, you will find
information such as how long he has been a BOTOX®
injector and for which conditions he has been injecting.
St. Louis Walk-a-thon Grows
In Second Year
The 2nd
Annual “Moving
Forward” St. Louis
Dystonia Walk-athon took place in
June at the scenic
Creve Coeur Park.
Nancy and Larry
Present organized
the event.
Participants
included walkers,
runners, bikes,
Larry and Nancy Present hosted
rollerbladers, and
another successful walk-a-thon.
even a few fourlegged friends. Attendees selected either a 3K or 5K
route and were treated to refreshments and a raffle
following the walk.
Fabulous entertainment packages were awarded to
Amy Present and Kendra Barker for securing the most
pledge money.
Nancy and Larry extend special thanks to event
benefactor Allergan, to sponsors Medtronic and Solstice,
and to the other local companies that supported the event
including the Sigma-Aldrich Foundation, Kellwood Co.,
J.B. Vending Company, Bandana's Bar-B-Q, Manor Real
Estate, St. Louis Dystonia Chapter, Schowalter and
Jabouri, PC, and Black Diamond Harley Davidson.
In their two years of hosting this event Nancy and
Larry have raised nearly $44,000 for dystonia research.
They are proud of their accomplishments and state,
“We are both inspired and motivated by the outpouring
of generosity from so many individuals and companies
as well as the public awareness the walk-a-thon has
created in the St. Louis area.”
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
Non-Profit Org.
U.S. Postage
PAID
Carol Stream, IL
Permit No. 2027
Monthly Program Makes Giving Easy
Did you know the DMRF has a new Monthly Donor Plan? This program makes it easy to
donate at your own pace by making a contribution each month. These monthly donations
quickly add up! Here is a brief overview of how the plan works:
WITH A CREDIT CARD:
Once you’ve given the DMRF your permission and credit card information,
we will charge your Visa, MasterCard, or American Express for the amount
you stipulate for a 12-month period of time. Each month, you will receive a
donation letter/receipt that can be used for tax purposes. After that 12-month
period, we will contact you to inquire if you’d like to continue with your monthly contributions.
WITH A CHECK:
If you prefer to mail your monthly donation via check, let us know. We are
more than happy to send you 12 donation envelopes that you can use to
send in your monthly contributions.
Give us a call at 800-377-DYST (3978) or send an email to
[email protected]. Start making a difference today!