MAGAZINE OF THE DYSTONIA MEDICAL RESEARCH FOUNDATION | SUMMER 2008 | VOL. 31 • NO. 2

5 ResearchIn 2008

10 DystoniaAdvocacy Day

18 Focus OnFocal Dystonias

inside this issue7 Research In 2008

New research and updates

10 Advocacy Day 2008Volunteers convene on Capitol Hill

12 Candid KidsStories from young members

17 A Gift That Keeps GivingThe benefits of brain donation

18 Focus On Focal DystoniasPersonal stories and science update

What is Dystonia?Dystonia is a disorder that affects the nervous system. Impropersignaling from the brain causes muscles to contract and twist involuntarily.Dystonia can affect a single body area or multiple muscle groups. Thereare several forms of dystonia, and dozens of diseases and conditionsinclude dystonia as a significant symptom. For more information visit:www.dystonia-foundation.org

On the Cover:Nine-year-old Allison Peralta of New Yorkis looking forward to many hours at thepublic pool this summer. In April of 2008,almost two years after her first deepbrain stimulation procedure, she requireda battery replacement. Allison’sphysicians are working to re-programthe new stimulator for the optimalsettings. Her mom Carol Ann reportsthat Allison’s symptoms are improvingand, “she always has a smile onher face and a song in her heart.”

This issue of the Dystonia Dialogue is generously supported by The Medtronic Foundation.

The Dystonia Dialogue is the magazine ofthe Dystonia Medical Research Foundation(DMRF). It is published three times a year toprovide information to individuals affected bydystonia, family members, and supporters ofthe DMRF.

The Dystonia Medical Research Foundation(DMRF) is a non-profit, 501c(3) organizationfounded in 1976. The mission is to advanceresearch for more effective treatments anda cure, to promote awareness and education,and to support the well being of affectedindividuals and families.

Dystonia Medical Research FoundationOne East Wacker Drive • Suite 2810Chicago, Illinois 60601-1905Phone 312 755 0198In Canada 800 361 8061Fax 312 803 0138Email dystonia@dystonia-foundation.orgWeb www.dystonia-foundation.org

Canadian donations may be sent to:Dystonia Medical ResearchFoundation Canada8 King Street • Suite 106Toronto, Ontario Canada M5C 1B5

The Dystonia Dialogue reports ondevelopments in dystonia research andtreatments but does not endorse orrecommend any of the therapeuticsdiscussed. Individuals are urged to consult aphysician with questions and concerns abouttheir symptoms and care.

StaffJanet HieshetterExecutive Director

Kathleen BehnerDirector of Operations

Ray Chaudhuri, PhDDirector of Strategic Alliances

Jessica FeeleyEditor and Special Projects

Margaret KeatingBookkeeper

Julie MackAdministrative CoordinatorMartha MurphyBrain Bank Liaison

Emma PintoDevelopment Coordinator

Tammy ReedSenior Associate Director of Development

Jody RooseveltScience and Technology Manager

Beverly SaizChicago Regional Director

Jan Teller, MA, PhDScience Officer

Germaine J. Mulhern, CPAFinancial Consultant

Printed in the USA.© Dystonia Medical Research Foundation

Allison Peralta

DYSTONIA DIALOGUE 3

INSIDE DMRF

Foundation UpdateThe leadership of the Dystonia Medical Research Foundation (DMRF) realizes that we arenot going to solve the mysteries of dystonia alone. In our pursuit of better therapies and acure, reaching out and forming partnerships with individuals, organizations, and institutionsis vital to our success.

The DMRF is working with other dystonia patient organizations to support an applicationto 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 collaborationhas potential to greatly advance the field because the organizations involved will join forcesand pool resources. Instead of spreading federal dollars among the individual organizations,the ORD is more interested in funding larger research projects born from collaboration amonglike-minded groups. We proudly joined with the Benign Essential Blepharospasm ResearchFoundation, National Spasmodic Dysphonia Association, Bachmann-Strauss Dystoniaand Parkinson Foundation, WE MOVE, National Spasmodic Torticollis Association, andDySTonia, 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 moreabout the application and express interest in participating. This project is ongoing, andwe will keep members posted.

Similarly, the DMRF supports the European Dystonia Federation’s efforts to host a medicaland research forum October 17-19, 2008 in Germany to highlight the latest developmentsin clinical practices and treatments for physicians. Leading experts from throughout Europeand North America will make presentations, and the latest research will be discussed in theScience 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 toprovide bridge funding to researchers who study dystonia but are not supported byNINDS due to a lack of NINDS resources. The DMRF now has an opportunity to helpthese scientists pursue their dystonia studies, and is one of multiple patient organizationsthat are helping NINDS fund dystonia investigations.

We value our partnerships and continue to seek out opportunities for collaborationto advance our mission. Our partnership with you, our readers, is as important as ourrelationships with any agency or organization. Our drive toward the cure is made strongerby our connections within and beyond the dystonia community.

Claire Centrella Janet HieshetterPresident Executive Director

CLAIRE CENTRELLAPRESIDENT

JANET HIESHETTEREXECUTIVE DIRECTOR

LIFETIME HONORARY DIRECTORSStanley Fahn, MDCharles H. Markham, MDJohn H. Menkes, MDMartin B. Sloate

BOARD OF DIRECTORSSamuel Belzberg,Chairman/Founder

Claire A. Centrella, PresidentLee Shulman,Vice President of Development

Rosalie Lewis,Vice President of Public Policy

Barbara Kessler, Vice Presidentof Awareness & Activities

Karen K. Ross, PhDVice President of Support

Mark Rudolph, TreasurerArt Kessler, Executive Board ConsultantSandra Weil, Network Liaison

DIRECTORSFrances Belzberg, Co-founderJohn GoldenMarilynne HerbertDennis KesslerDeborah Kilpatrick, PhDRichard A. Lewis, MDDiane RudolphGreet RuelensJeffrey Sherrin, Esq.Bonnie StraussJohn SymondsLieve Van GorpMahlon R. DeLong, MD,Scientific Director, ex officio

Janet Hieshetter,Executive Director, ex officio

Ann Lebrun,Leadership Chairperson, ex officio

4 SUMMER 2008

Four-legged Friends Walk For DMRF“Dogs For Dystonia” Is A Success

Known for its temperamental weather, the City of Chicagograced the 1st “Dogs for Dystonia” Chicago Dog Walk with aperfect spring day. Over 100 people and their dogs showed upto help raise awareness and achieve a cure for dystonia. Severalteams represented the Chicago movement disorders communityincluding Dystonia Study Group Chair Cynthia Comella, MDand a contingent from Rush University Medical Center, andCindy Zadikoff, MD of Northwestern Memorial Hospital andher family.

Cameras from television stations and pre-event publicity broughtnew visibility to dystonia and the DMRF. Festivities includedwarm-up exercises led by Andrea Metcalf of NBC5's FitnessTeam preceding the walk. Awards were distributed for caninetalents such as “Most Kisses In 15 Seconds” and “Best Dancer.”The “Best Costume” award was bestowed on Joey, a schnauzerdressed like Elvis in a pink Cadillac.

Breanna and Carlos Mendez of Rockford, Illinois and theirchildren Jonathan, Stephanie, and Christian served as the DogWalk poster family by appearing on promotional materials andbeing a part of the event committee. The family spoke to DogWalk participants about their journey with Stephanie’s dystoniadiagnosis and treatment.

Another Step Toward the CureGet Your DMRF Clogs Today

The DMRF is proud toannounce the availabilityof new awareness clogs.These clogs have anon-skid sole and arelightweight, durable,

and easy to clean. Royalblue with “Dystonia Medical

Research Foundation” written in white onan interchangeable strap, these clogs areavailable for $25 per pair (US). Priceincludes 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 byemailing dystonia@dystonia-foundation.orgor by phone at 800-377-DYST (3978).

Dystonia Days Summer SaleSummer is here and the DMRF is having aclearance sale! We are pleased to offer specialpricing on a variety of our most popularmerchandise at a savings of 50-75% off.

Shop our items from the comfort of yourhome. A complete listing of our sale items isavailable at www.dystonia-foundation.org.Look for the link on the homepage.

To receive these special prices, you must placeyour order by contacting Julie Mack at theDMRF by phone at 800-377-DYST (3978)or email at jmack@dystonia-foundation.org.Be sure to mention that you read about thesale in the Dystonia Dialogue !

DYSTONIA DIALOGUE 5

RESEARCH

Research In 2008The 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.

RESEARCH CONTINUED ON PAGE 6

Stanley Fahn Award“Unraveling TorsinA Function and Dysfunction”William Dauer, MD, Columbia UniversityDr. Dauer is examining what happens to brain cellswhen the dystonia protein torsinA ceases to functionnormally. He has proposed a range of studies on thebrains and cultured neurons from mice that either lacktorsinA or only produce mutated torsinA. Dr. Daueralso suggests that learning more about the function ofproteins with which torsinA interacts will yield cluesabout its function, and has incorporated experimentsalong these lines into this investigation. Uncovering thefunction of torsinA will ultimately provide a target fornew treatments.

Cure Dystonia Initiative Projects“Assay Development and Target Validation ofSmall Molecule Therapeutics for Dystonia”Kim Caldwell, PhD and Guy Caldwell, PhDUniversity of Alabama, TuscaloosaIn an effort to identify drugs that might be effective fordystonia, Drs. Kim and Guy Caldwell use a geneticallymodified worm called C. elegans to screen for chemicalcompounds and existing medicines (already approved bythe Food & Drug Administration for other conditions)that modulate torsinA and may therefore have therapeuticpotential. The use of the worm not only speeds up thescreening but also lowers the cost of such studies. TheCaldwells have already identified several molecules thataffect the activity of torsinA in C. elegans.

“Therapeutic RNA Interference for DYT1 Dystonia”Pedro Gonzalez-Alegre, MD, University of IowaThis is an extension of a two-year grant awarded toDr. Gonzalez-Alegre to study novel approaches todystonia therapeutics based on the revolutionary RNAi(a.k.a. ‘gene silencing’) technology. Dr. Gonzalez-Alegre

is a pioneer in this field and the first to report specificsilencing of the mutant DYT1 gene in cells. Thisextension will provide funds to test the interventionin animal models.

“siRNA and Pharmacological Intervention Strategiesfor DYT1 Dystonia” (2nd year)Yuqing Li, PhD, University of Alabama, BirminghamIn this investigation Dr. Li is developing new treatmentstrategies for DYT1 dystonia. Dr. Li and his team areusing mouse models to test RNAi to suppress the effectsof the DYT1 mutation known to cause dystonia. Themice are studied in various behavioral and motor teststo evaluate the efficacy of the treatment.

“Screening for TorsinA Interaction-modulatingCompounds”Michal Zolkiewski, PhD, Kansas State UniversityDr. Zolkiewski is developing a new method to screenfor drugs and novel chemicals that might be effective instopping the negative effects of mutated torsinA, thecause of DYT1 dystonia. The idea behind his design isto ultimately develop a high-throughput assay, in whichthousands of chemicals can be screened simultaneouslyat very high speed and extremely low cost.

Research Grants“How Does TorsinA Affect Dopamine Release?”(2nd year)Aygul Balcioglu, PhD, Massachusetts General HospitalSeparate research efforts have associated the proteintorsinA and the neurotransmitter dopamine with dystonia.Dr. Balcioglu is examining the connection between thetwo. Dr. Balcioglu is examining how normal and mutatedtorsinA impact dopamine transport, metabolism, andstorage. Identification of abnormalities in dopaminesignaling may allow for targeting the dopaminergic

6 SUMMER 2008

system with new treatments, especially since there aresafe and effective drugs that affect dopamine signalingand are approved for other diseases.

“Correlating Structural and Functional BrainAbnormalities in Dystonia” (2nd year)Anne Blood, PhD, Massachusetts General HospitalIn past research, Dr. Blood used brain imaging to showthat people with focal dystonia appear to show twospecific irregularities in basal ganglia brain circuitry.These observations may reveal important informationabout the cause. The objective of Dr. Blood’s currentstudy is to focus on these apparent circuitry changes inindividuals with cervical dystonia and see if there arealso corresponding anatomical differences. The resultsof this research may provide insight into the causes offocal dystonia and/or suggest possible biomarkers toassist in diagnosis.

“Function of TorsinA in Cell Polarization”Gregg Gundersen, PhD, Columbia UniversityUnderstanding how the protein torsinA functionsnormally in cells—and how mutated torsinA ultimatelyresults in DYT1 dystonia symptoms—remains a toppriority in the dystonia research community. Dr. Gundersonproposes that torsinA plays an important role in main-taining the proper structure of cells, a process calledcellular polarity. In this proposal, Dr. Gunderson andhis team will test whether torsinA is required for cellpolarization, how torsinA contributes to cell polarization,and what proteins torsinA interacts with to regulate thisprocess. The results gained from this research will helpform the basis for the development of new therapeutictargets that may be useful for the treatment of dystonia.

“Whole Genome Analysis of Dystonia: Autozygosityand Copy Number Variant Assessment”John Hardy, PhD, University College LondonTo date 16 genes have been associated with dystonia(DYT1-DYT16) and the underlying genetic mutationshave been identified in seven of them (DYT1-3-5-8-11-12-16). Only a percentage of people who inherit dystonia-causing mutations ever develop the disorder. Dr. Hardyis conducting a whole genome analysis of dystonia.Whole genome association studies can identify specificpoints of variation in human DNA that underlieparticular diseases. Taking a broad view of the genetic

RESEARCH CONTINUED FROM PAGE 5

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 madeup 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 diseaseprocess that a treatment addresses,

ideally the disease mechanism.

DYSTONIA DIALOGUE 7

factors that influence dystonia is central to discoveringand developing the next generation medicines that targetsymptoms with increased precision and reduced risks.

“rTMS for the Treatment of Focal Hand Dystonia”Teresa Kimberley, PhD, University of MinnesotaThis proposal will investigate the effectiveness of atherapy called transcranial magnetic stimulation (rTMS)in volunteers with focal hand dystonia. Completion ofthis proposal will provide important information aboutthis emerging treatment with exciting possibilities forpersons with all forms of dystonia.

“Structural Basis for TorsinA Function” (2nd year)John Ladias, MD, Beth Israel Deaconess Medical CenterThe precise function of the dystonia protein torsinAremains unknown, in large part because its three-dimensional structure is undefined. This limits ourunderstanding of the way torsinA interacts with otherproteins and the molecular mechanisms that lead tosymptoms. Dr. Ladias aims at determining the three-dimensional structures of normal and mutated torsinAusing a technique called X-ray crystallography. Under-standing how torsinA is structured will help scientistsidentify targets for potential new therapeutics.

“Molecular Network Abnormalities in Adult-onsetPrimary Dystonia”Mark LeDoux, MD, PhDUniversity of Tennessee Health Science CenterIt is estimated that 10% of individuals with adult onset,primary focal dystonia have at least one first-degreerelative with dystonia. In addition, focal dystonias arecommon in well-described hereditary dystonias (forexample, focal hand dystonia is a common componentof DYT1 dystonia). Dr. LeDoux seeks to identify genesand molecular pathways associated with the developmentof adult onset, primary dystonia. This study may pinpointmolecular targets for therapeutic intervention in patientswith primary dystonia.

“Tactile Operant Conditioning to Alleviate FocalHand Dystonia Symptoms” (2nd year)Aimee Nelson, PhD, Toronto Western HospitalPeople with the focal dystonia called writer’s crampexperience uncontrollable movements of the handduring certain types of skilled movements. Scientistsbelieve that brain areas involved in moving the hands

and receiving touch information from the hands areinvolved. The goal of Dr. Nelson’s research is to alleviatesymptoms of hand dystonia by implementing an intensivetraining treatment that requires patients to respond toand use touch information. The study will first involveusing several brain imaging tools to identify and observethe areas of the brain that receive touch informationfrom the hand. This research will advance the treatmentof focal hand dystonia and assist the design of preciserehabilitation training.

“Characterization of Striatal Muscarinic ReceptorFunction and Their Interplay with Endocannabinoidsin a Mouse Model of DYT1 Dystonia”Antonio Pisani, MD, University of Rome Tor VergataIt is believed that dystonia symptoms result fromirregular neuron signals within the basal ganglia of thebrain, and specifically an area of the basal ganglia calledthe striatum. In this brain region, a balance exists betweentwo major neurotransmitters: dopamine and acetylcholine.Disruption of this balance leads to the development ofdystonic symptoms. The primary goal of this project isto identify the brain receptors that control the closerelationship between dopamine and acetylcholine at thestriatal level. The results of this study may provide newinsights for improved use of anticholinergic treatmentfor dystonia with fewer side effects.

“Characterization of Substrate Interactions withTorsinA”Phil Thomas, PhDUniversity of Texas Southwestern Medical CenterIn this proposal, Dr. Thomas examines the interactionof torsinA with two proteins: LAP1 and LULL1.New potential partner proteins for torsinA mayalso be identified to further our understanding ofthe function of torsinA and development of noveltreatment for dystonia.

“Modulation of Subthalamic FunctionBy Muscarinic Acetylcholine Receptors:Implication in Treatment of Dystonia”Zixiu Xiang, PhD, Vanderbilt UniversityAnticholinergic drugs are a group of medications(including Artane®) that can be extremely effectiveat reducing dystonia symptoms. However, the drugsfrequently cause intolerable side effects that limit theiruse. Dr. Xiang is investigating a group of compoundsthat may mimic the beneficial effects of anticholinergics

RESEARCH CONTINUED ON PAGE 8

8 SUMMER 2008

without the side effects. The results of these studies willprovide insight into developing new therapeutic agentsthat target the appropriate aspects of the basal gangliawithout triggering side effects.

Fellowships“Function of Frontal and Parietal AssociationCortex in Focal Hand Dystonia”Leighton Hinkley, PhDUniversity of California, San FranciscoIndividuals with focal hand dystonia often have musclespasms at very unique points in time, when the brain isprocessing a great deal of information (visual, tactile,movement, cognitive) in order to perform a highlycomplex, coordinated movement such as writing orplaying a musical instrument. Evidence from neuroimagingstudies suggests that the muscle spasms present in theseindividuals occur because the brain is struggling tointegrate sensory information with the motor system.Little is known about how the brains of people withdystonia process sensory information (such as vision).This project will examine the part of the brain known tointegrate this information—regions of frontal cortex andparietal cortex—when patients with focal hand dystoniaand age-matched control subjects perform visually-guidedmovements. This project will broaden our understandingof the neurobiological basis of focal hand dystoniaand contribute to improved rehabilitation andtherapeutic techniques.

“Reduced Striatal RGS9 in an Animal Modelof DYT1 Dystonia”Jayms Peterson, PhD, Northwestern UniversityDr. Peterson is using a mouse model to investigate how aprotein called RGS9 may play a role in dystonia. RGS9influences how the brain uses a neurotransmitter calleddopamine which has long been associated with dystonia.These studies may establish the RGS9 protein as a targetfor new treatments.

“Identification and Analysis of Binding Partnersfor TorsinA and Tor3A” (2nd year)Gena Stephens, PhDWashington University School of MedicineTo fully understand torsinA’s function scientists need toidentify proteins that it associates with and acts on,especially in brain cells. Only a handful of proteins thatbind with torsinA have been identified so far. Dr. Stephens

plans to identify proteins that interact with torsinA andanother very similar protein called tor3A. Dr. Stephensanticipates identifying binding partners that function inspecific locations within the cell. This information willprovide additional insight into the function of the torsinproteins and their role in dystonia, and may allow forthe successful design of potential new drugs.

“Identifying Substrate and Functional Locusof DYT8 in the CNS” (2nd year)Yiguo Shen, PhD, University of California, San FranciscoMost cases of paroxysmal non-kinesigenic dyskinesia(PNKD) appear to be caused by a mutation in theDYT8 gene. The DYT8 gene provides the body withinstructions for a protein called MR1. In this proposal,Dr. Shen will attempt to determine the function ofMR1, investigate which proteins interact with MR1 inbrain cells, and observe how the mutant MR1 affectscontrol in mice. The study should uncover the molecularmechanism of DYT8, contribute to the knowledge ofdystonia, and potentially help develop new treatments.

RESEARCH CONTINUED FROM PAGE 7

FYI For Healthcare Professionals• The European Dystonia FederationMedical Advisory Board is hosting“Dystonia Europe 2008” in Hamburg,Germany October 17-19. This scientificcongress—the first large-scale meeting inEurope purely on dystonia since 1994—will have sessions on the latest developmentsin clinical features, treatment, and research.The faculty includes leading dystonia expertsand thought leaders from Europe and NorthAmerica. For more information, visitwww.dystonia-europe-2008.org

• A fact sheet entitled OromandibularDystonia for the Dental Professional—Clinical Implications is available on theDMRF website (www.dystonia-foundation.org)under “News & Resources” and then“Publications & Multimedia.”

DYSTONIA DIALOGUE 9

Investing In People, Investing In ResearchOne of the most important functions of DMRF science funding is to provide‘seed money’ to emerging investigators that is used to segue their research intomore substantial funding from the National Institutes of Health and otherentities. The science program is also designed to attract young investigators todystonia research and help propel them into careers based in this field. TheDMRF is proud to provide updates on just a few exemplary investigators whoare contributing significantly to research since first partnering with the DMRF.

Epidemiological InformationCaroline Tanner, MD, PhD came to the DMRF as a grant applicant in 2000.The DMRF funded her proposal to begin collecting much-needed data onthe incidence and prevalence of various dystonias. She has established herself asa movement disorders expert with special interest in epidemiologic investigations.At present, Dr. Tanner is Director of Clinical Research at the Parkinson'sInstitute in Sunnyvale, California and her dystonia epidemiology study is ongoingthrough support from the National Institutes of Health. She served on theMedical & Scientific Advisory Council in 1999-2003.

Experimental TreatmentsPedro Gonzalez-Alegre received his MD degree at the University of Malaga,Spain in 1996. In 2002 he was awarded a DMRF fellowship as a PostdoctoralFellow in the Department of Neurology at the University of Iowa. Now anAssistant Professor of Neurology at the same institution and still supported bythe DMRF, he has established himself as a trailblazer in exploring gene silencingas a revolutionary new dystonia treatment and was invited to join the MSAC in2006. Studies in his lab focus almost entirely on DYT1 dystonia and its impli-cations for all dystonias. See page 5 for a summary of his 2008 DMRF grant.

International ResearchAntonio Pisani, MD, a neurologist in Rome, Italy, was awarded his first DMRFgrant in 2005. In 2006 he was invited to discuss his work with the Medical &Scientific Advisory Council. Since that time, he organized an internationalmedical conference for scientists and physicians in 2007 entitled “ScientificUpdate on Dystonia,” and a follow-up event is planned for 2009. In addition totreating patients, Dr. Pisani is engaged in cutting-edge research on specific brainreceptors and dystonia. See page 7 for a summary of his 2008 DMRF grant.

Care & Research For Childhood DystoniasThe DMRF first got acquainted with Terence Sanger, MD, PhD when hewon the 2000 New Millennium Young Investigators Award while a ClinicalFellow in the Movement Disorders Unit at Toronto Western Hospital. Sincethat time he has served as Director of the Pediatric Movement Disorders Clinicat Stanford University and in 2001 established California’s only researchlaboratory to study movement disorders in children. There are relatively fewpediatric movement disorder specialists, and Dr. Sanger quickly establishedhimself as such both in terms of caring for patients and advancing research.He was invited to join the Medical & Scientific Advisory Council in 2004.

UPDATES ON 2007RESEARCHSeveral DMRF grants werecompleted in 2007. Beloware brief updates on theresults of two of theseinvestigations.

Musician’s Dystonia –Eckert Altenmüller, MD’swork has revealed thatmusicians with focal task-specific dystonia of thehand likely have a geneticpredisposition, and that asignificant number ofmusicians with dystoniahave family members withsubtle symptoms. Furthermolecular genetic studiesare looking for commongene mutations. Preliminaryresults conclude thatmusician’s dystonia isnot associated with DYT1dystonia, but a connectionto the DYT7 gene cannot beruled out. The DYT7 gene isassociated with adult onsetfocal dystonia isolated in alarge German family.

Cervical Dystonia – In 2006Susan Fox, MRCP, PhD begana two-year study hypothesizingthat the drug dronabinol mayeffectively treat cervicaldystonia. The study suggeststhat a three-week course ofdronabinol did not improvedystonia symptoms. It isunknown if a longer course oftreatment might be beneficial.The drug caused few sideeffects and may have anapplication to treat dystonia-related pain.

10 SUMMER 2008

ADVOCACY

Dystonia Advocacy Day 2008Volunteers Unite In Washington

On April 29, volunteers from across the country gathered inWashington, DC for an afternoon of legislative advocacy training.The 80-plus volunteers represented the organizations that make upthe Dystonia Advocacy Coalition (DAC). The mission of the DACis to speak with one voice to Congressand government agencies foradvocacy issues affecting thedystonia community.

President Dale Dirks and DaneChristiansen of the Health andMedicine Counsel of Washingtonprovided the advocacy training.Kimberly Kuman, ExecutiveDirector of the National SpasmodicDysphonia Association, introducedthe keynote speaker, Christy Ludlow,PhD, Chief of the Laryngeal andSpeech Section, National Instituteof Neurological Disordersand Stroke.

The following day, the DAChonored Congressman Jim Walshof New York with the 2008Distinguished Public Service Award.Congressman Walsh was recognizedfor his leadership and continuedsupport of the dystonia communityand our efforts to have researchdollars appropriated through theDepartment of Defense.

Volunteers spent the afternoonof April 30 visiting Congressionaloffices and educating legislatorson the needs and concerns of thedystonia community.

Vice President of Public Policy RosalieLewis honored Congressman JimWalsh ofNY on Advocacy Day.

Rita Molnar is one of severalvolunteers who traveled fromNJ to participate in DystoniaAdvocacy Day.

Melissa Rentfrow, Maddie Paolero (seated),and Maddie’s assistance dog Reno met withCongressman Patrick J. Kennedy of RI.

Members Of TheDystonia Advocacy

Coalition• Benign EssentialBlepharospasmResearch Foundation

• DySTonia, Inc.• Dystonia MedicalResearch Foundation

• National SpasmodicDysphonia Association

• National SpasmodicTorticollis Association

11DYSTONIA DIALOGUE 11

Bringing Our Stories To Capitol HillMy Experience At Dystonia Advocacy Day

By Jennifer Heil, Lexington, Kentucky Dystonia Support Group Leader

The energy of the Dystonia Advocacy Coalition (DAC) was in the airwhen my husband Nick and I entered the lobby of the Hotel Palomarin Washington, DC. Before we even checked in, I saw the familiar face

of Leadership ChairpersonAnn Lebrun, whoseenthusiasm and warmwelcome set the tonefor the next two days.

I have generalized dystonia,and Nick is a major part ofmy support network. Nickhas gone to many supportgroup meetings and hasheard other support group

members share their stories about living with dystonia. We traveled toWashington to bring these stories to our members of Congress.

Nick remarked that he wished he had reviewed the materials we receiveda little more thoroughly. Our friends on the DMRF staff assured us thatby the end of the day, we would be well-prepared (and well-fed!). I toldhim that by the evening's end, he would be ready to visit Capitol Hillwithout any reservation.

It was exciting to meet people from the DAC organizations and workas a team on our visits to the Congressional offices. When the Meige’ssyndrome revealed itself on my face during our visit with Scott Raab inSenator Mitch McConnell's office, my teammates Ellaweese McClendonand Linda Schnackenberg filled in where my crackling voice left off. Nickdid the same during our visit with Congressman John Yarmuth, finishingmy broken sentences.

Participating in this year’s Advocacy Day gave me the opportunity to urgeour legislators to become aware of what we live with every day, and whatwe need for a better quality of life and ultimately for a cure.

I realize that not everyone is able to travel to Washington for AdvocacyDay, but we can also advocate from our own homes by emailing andphoning our Senators and Representatives. Please take time to learn aboutthe message DAC is sending to Congress and how you can help. I amgrateful to have participated in this year’s Advocacy Day and encourageothers to get involved as well.

Jennifer Heil visited Congressman JohnYarmuth of KY on Advocacy Day.

GINA Here To StayPresident Signs NewCivil Rights Legislation

In April the Senate passed theGenetic Information Nondis-crimination Act (GINA/ S.358),approving by unanimous consentan amended version of the bill(H.R. 493) that previously passedin the House of Representatives.President George W. Bush signedthis bill into law on May 21.

GINA is a piece of civil rightslegislation designed to protectan individual’s genetic informationfrom misuse by employers andinsurers, and thereby freeingfamilies at risk for inheriteddisorders to take advantage ofgenetic screening without fearof the information being usedagainst them.

The passing of GINA is a specialvictory for the dystonia community.This was one of the core concernsaround which the DMRF AdvocacyProgram was formed, and an issuefor which dystonia advocates havebeen fighting ever since. The DMRFextends a heartfelt thanks to alldystonia advocates for the yearsof hard work it took to get this billpassed. GINA is a victory for thedystonia community and allindividuals affected by geneticdisorders.

12

CCAANNDDIIDD KKIIDDSS Tips That Work For MeBy Grace VanZoeren

I’m 16 and my dystonia is in myright hand. It shows up in otherplaces too, but mostly it affectsmy hand. My teachers knowabout it, and a lot of them arepretty cool about not makingme take a ton of notes. Testsare the worst because of thestress factor added to thewriting. So I sometimes haveto ask for help like near theend 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 atight grip on it.

• I have a writing implement thing that my neurologistsuggested. It looks strange, but it does help.

• My mom helps with writing homework because I ammost 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 thestart of taking a new med it takes time for my body toget used to it. Not taking meds isn't an option for me.Life was much harder without it. Dystonia was takingup too much of my life. Now it really doesn't botherme. I'm loving life and living it to the fullest.

I’m a cheerleader and was captain last season. I loveto sing in the school choir. I also do lyrical dance. Iknow my limits, and I don’t try to push them. I listento my body, and I think I have figured out how to bepretty happy.

Meet Jimmy Teachers Help Student Learn at Home

Jimmy Koenig is 16 years old and lives in Boca Raton,Florida. He has secondary dystonia that doctorsbelieve 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 noone else in the family canmake. He has a brotherMichael and a sister Amy. He also has a dog named Penny.

Jimmy cannot attendschool, but he is gettinghis education.

Miss Cindy Karttunencomes to Jimmy’s house two orthree times a week to teach his lessons. They do projects together. He made his mom a Mother’s Daycard with Miss Cindy’s help.

Miss Tina Duchon is Jimmy’s speech teacher. Shecomes to the house once a week to teach him signlanguage. Even though he cannot speak, he stillmakes jokes and has a sense of humor.

In between visits from his teachers, Jimmy’s mom Linworks with him on assignments.

Jimmy doesn’t get a summer break! Summer schoolteachers will come to his home until school startsagain in August.

Grace shares her

tips.

Miss Cindy teaches Jimmyat his house.

Young People with Dystonia

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

Juggle-In CelebratesThe Gift Of MovementAnnual Exhibition Supports DMRF

The Rochester Institute of Technology (RIT)’s31st Annual Spring Juggle-In took place April18-20, 2008 and attracted over 400 jugglersfrom around the world. The Juggle-In is one

of the biggestjugglingexhibitions 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 theDMRF by his friendship with Vice President of Public Policy Rosalie Lewis and her family.

Days prior to the Juggle-In, Ted and hisdaughter Molly appeared on WROC-TV’sNews 8 Now program to promote both theevent and dystonia awareness. The station sent a camera to the event and caught up withevent organizer Jeff Peden, who has juggledprofessionally for over 20 years and has been a juggling instructor at RIT since 1999. “Asjugglers, we depend on movement to do whatwe love—what could be better than supportinga foundation that does research for people who have been robbed of their movement?” he explained.

Over the years, the RIT Juggle-In has raisedover $17,000 for dystonia research. “This issuch a fun, creative kind of event that reaches a whole new audience of people for us,” saysDMRF President Claire Centrella. “Theawareness is wonderful, and we’re honored that the RIT Juggling Club is helping us fund research.”

FYI For Parents

• Jimmy’s teachers are homebound tutorsfrom the public school system.

• Jimmy has an IEP (Individualized EducationProgram). In his case, a physician’s letterwas an important part of establishingthat a home program was required.

• An IEP is a legally binding document thatspells out exactly what special educationservices a child will receive and why.

• Individual school districts must assumethe costs for any services included in astudent's IEP. The kinds of services thatschool districts can afford varysignificantly.

• Under federal special education law,schools are required to give students thechance to make educational progress, butthe law does not require them to educatechildren to their absolute highest level ormaximize their potential.

• Some children with dystonia frequentlymiss school because of treatment orcomplications. If that's the case for yourchild, check into homebound tutoring, aspecial service provided by schooldistricts.

• Schools administer homebound programs in different ways, so it isimportant to know exactly what yourschool can provide. ‘Intermittent’homebound tutoring may be an option for a child who is temporarily unable to attend school.

Young People with Dystonia

13

14 SUMMER 2 0 0 8

The Central Florida Support Groupmet in January. Anette Nieves, MD,Medical Director, Movement DisordersClinic in Ocala was the guest speaker(center) and is pictured with LeaderAnna DiPleco (right) and Co-leaderGrady Fisher Greaves.

Brian Alman, PhD spoke to theSupport & Advocacy Group of SanDiego County on mind/body healingin March. Over 50 people attendedthe meeting. Pictured from left toright: Dr. Alman, Leader MarthaMurphy, and group members DaveSempsrott and Richard Parcel.

Amy Behar, member of the GreaterDallas Dystonia/Dysphonia SupportGroup works at a technical college,and each year she conducts a lectureon dystonia for the students who arestudying to be medical assistants,pharmacy techs, or medical billing

and coding specialists. She alsouses the web to promote awarenessby posting information on dystoniaand publishing candid video diaries.

Beth Farber was one of the Chicago-area volunteers who represented theDMRF at the NBC5 Healthy LifestylesExpo in Chicago. Beth spoke oncamera with NBC 5 medical expertMary Ann Malloy, MD.

In April, Public Relations CommitteeMember Paula Schneider representedthe DMRF at the opening night ofCrooked, an off-Broadway productionwhose main character has dystonia.The DMRF partnered with the Women’sProject theatre to educate audiencesabout the disorder.

Paula and Don Gates hosted the“Return to Margaritaville” Dance & Fundraiser in April. Guests woreHawaiian-style leis and socialized to music by Jimmy Buffet. The eventincluded a silent auction and rafflethat featured a Deluxe Red Sox GiftBasket including two game tickets to see the Red Sox host the Yankeesat Fenway Park in July.

Nicknamed “The Texas Twister” for her refusal to let dystonia get in her way, Vickie Ann Hutchinsonis determined to improve dystoniaawareness in her community. As a member of the Greater DallasDystonia/Dysphonia Support Group,she has had several articles printedin local papers, started a website,

and distributed information to cityoffices in Tarrant County, Texas.

The DMRF hosted a CommunityEducation Forum in Cincinnatifeaturing George Mandybur, MD,Associate Professor of Neurosurgeryand Director of the Division ofFunctional and Stereotactic Neuro-surgery at University of Cincinnati,and Andrew Duker, MD, AssociateProfessor of Neurology at the Uni-versity. Medtronic representativeBeth Mitchell attended.

The Ottawa Dystonia Support Group held their annual Walk andWheel fundraiser on Parliament Hillto benefit research. Over the pastten years the group has raised over$60,000. The Prime Minister ofCanada sent a personal messagethat Leader Stu Higdon read toattendees.

The Birmingham, Alabama SupportGroup launched a series of aware-ness activities: Governor Bob Rileyproclaimed the first week in June

PEOPLE ON THE MOVEThe DMRF is fortunate to have such a dedicated network of volunteers. DMRF volunteers exercisetheir 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 whatyou’re doing in your community. We look forward to hearing from you, and thank you for all you do!

DYSTONIA D IALOGUE 15

2008 as Alabama Dystonia Aware-ness Week, press releases aboutthe Governor’s proclamation weredistributed to area newspapers,bookmarks were distributed to 150 public libraries, and a table top exhibit was displayed atcommunity events.

Tina Maslak-Slater of Jordan, NewYork organized a combined Plant/Bake Sale on May 10 and raised$300 for research. Diagnosed in2005 with cervical dystonia, Tina’sinspiration to make a difference arethe children who are affected. She isalready working on another communityevent scheduled for this fall. Picturedleft to right: Jamie Overend, TinaMaslak-Slater, Melissa Slater, AbbyMoynihan, and Ashley Dening.

Houston Area Support Group LeaderJennifer Hunt made a friendly wager

with AmericanLe MansSeries racerJohnnyO'Connell:for everyrace heloses, he

must make a donation to the charityof Jennifer’s choice. If he wins,Jennifer must return the favor.Johnny recently upped the ante bysurprising Jennifer with a $200check made out to the DMRF. Johnny has also donated auto-graphed t-shirts and a hat forJennifer to use in an upcomingauction to benefit the DMRF.

Dena Sherry, whose daughter Janawas diagnosed several years ago,ran her first marathon to raisepledges for the DMRF. The Sherryfamily traveled from California for theEugene Marathon in Oregon. Denawrites, “The marathon was amazing,exhilarating, hard, and painful.” Sheraised $4,000!

Julie Zaia ran the 2008 Walt DisneyMarathon in honor of her sisterStephanie Zaia and to raise fundsfor the DMRF. Julie designed adystonia awareness t-shirt that she wore during the race.

Student Kelsey Carpenter of NewJersey organized a “Dress Down

Day” fundraiser at her school, Our Lady of MercyAcademy. For a $3 donation tothe DMRF, studentswere permitted to

wear clothing other than their schooluniforms. Kelsey also wrote a paperabout dystonia and the DMRF forSister to read over the loudspeaker.

The DMRF hosted “Dystonia: AnOverview and Update” in Irvine,California on May 4. This educationalevent featured movement disordersexpert Neal Hermanowicz, MD;neurosurgeon Devin Binder, MD, PhD;and physical therapist Mary Hudson-McKinney, DPT. Brain Bank LiaisonMartha Murphy served as emceeand provided a patient perspective.

The Dystonia Health Fair receivedhigh marks and had an excellentturnout. Over 80 participants and 12 experts in their field came toRush University Medical Center inChicago to learn from each other.Leo Verhagen, MD, PhD provided the keynote address on “What

Does It Mean To Be Diagnosed With Dystonia?”

The Hamilton Support Group’s Walkand Wheel took place in June andattracted approximately 90 people.The group is led by Laurie Bell andRose Gionet.

In June, Danbury High School studentshosted the 2nd Distance for DystoniaWalk-a-thon in Connecticut. StudentCharly Almonte organized the eventwith assistance from fellow studentsMichael Bovin and Kevin Holmes.Pictured from left to right areMichael Bovin, Joan Mandzuk,Paula Schneider, Timothy Insogna,Eric Mandzuk, Charly Almonte, and Kevin Holmes.

We want to hear from you!Please send us news andphotos of your activities.

16 SUMMER 2 0 0 8

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 entertainmentstarring Anthony Galde who appears in Wicked on Broadway. Anthonygenerously donated his time and talents and inspired 20 of his Broadwaycolleagues to do the same. The result was a magical occasion for 130 friends andsupporters of the DMRF who weretreated to a mosaic of songs ranging from“Bring Him Home” from Les Miserablesto “When You’re Good to Mama” fromthe show Chicago. The performancescaptured the full spirit of the Americanmusical while raising much neededresearch dollars.

In addition to the performance, attendees were treated to hors d’oeuvres,cocktails, and a scrumptious dessert bar.Intermission featured a live auction thatincluded several sets of tickets to JerseyBoys and Wicked, and the opportunity to win a flat screen television by playing an interactive game of chance called “Heads or Tails.” LongtimeDMRF supporters the Nathans won the television and generously donated it back to the DMRF.

Special thanks to the event committee members who included Judy Bozza, Sandra Nathans, Dara Reynolds, andMichael Shine. Mark your calendars—the 2nd Annual Curtain Call For A Cause is scheduled for April 20, 2009.

PEOPLE

AWicked Good TimeBroadway Stars Perform DMRF Benefit

Broadway star Anthony Galdeshared his precious time andample talents on behalf ofDMRF. He is seen here withPresident Claire Centrella.

Committee member Sandra Nathansand children Lydia and Jack show offthe event program.

Committee member Dara Reynoldswas joined by daughter Carly andmom Barbara Switzer.

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 D IALOGUE 17

Each of us has the opportunity tomake a difference in the world.Some of us choose to be organdonors and give the gift of life toothers. Another way to make animpact, especially for those of uswho have dystonia, is to enroll inthe Brain Donor Program. As theDMRF Brain Bank Liaison andsomeone who has lived withcervical dystonia for 32 years, Iknow that the answers to thismystifying disorder cannot comesoon enough. To make importantstrides, researchers need to study thebrain tissue of both dystonia-affectedas well as non-affected individuals.

The DMRF partners with the NICHDBrain and Tissue Bank (BTB) forDevelopmental Disorders at theUniversity of Maryland in Baltimore.My role as the Brain Bank Liaison isto facilitate the registration processand provide information to potentialdonors. I work closely with MelissaDavis, Research Project Coordinator at the BTB.

The BTB is a tissue resource centerestablished by the National Institute of Child Health &Human Development (NICHD). The BTB serves as anintermediary between people who wish to donate tissuefor research upon death and the research community.The BTB safely stores the tissue, and it is made availableto qualified scientists who request it for research.

Dystonia research requires a detailed analysis of proteins,DNA, RNA, and neurotransmitters in the brains ofaffected individuals. Only through the study of donated

brain tissue can crucial answers be found.

Participation in the brain donorprogram is free. Brain donationdoes not interfere with plannedfuneral or memorial services oralter the outward appearance ofthe 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 donorto let his/her wishes be known tofamily members so that they can becarried out when the time comes.Tissue collection must occur within thefirst 24 hours and, preferably, within 8 hours after death. Brain donors receivea donor registration card as well as arefrigerator magnet with the phonenumbers to contact when death isimminent or has occurred. Thesenumbers are staffed 24 hours a day, 7 days a week.

To learn more about the Brain DonorProgram, please contact Martha at

brainbank@dystonia-foundation.org or 800-377-3978.You may also contact Melissa Davis at the BTB at 800-847-1539 M-F, 9-5 pm EST or anytime in the event ofan emergency. If you contact the BTB directly aboutbecoming a donor, please inform them that you areaffiliated with the DMRF. To learn more about braindonation, visit www.dystonia-foundation.org orwww.btbankfamily.org

Become a brain donor and make a difference!

Melissa Davis and Robert Vigoritorepresented the NICHD Brain and Tissue Bank at a recent Society for

Neuroscience Conference.

RESEARCH

A Gift That Keeps On GivingThe Brain Donor Program Supports ResearchBy Martha Murphy, DMRF Brain Bank Liaison

ARTICLE AT A GLANCE• Advance registration isimportant to becoming abrain 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.

18 SUMMER 2 0 0 8

The National Institute of Neurological Disorders & Stroke (NINDS) is the primary federal agency for conductingand supporting medical research on diseases that affect the nervous system. Mark Hallett, MD heads both the MedicalNeurology 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—forhelping patients get better—and it also raises interesting questions about how the brain produces movement.”

Focal dystonia is defined as dystonia that remains isolated to a particular bodyarea. Dr. Hallett explains that there is strong evidence that all focal dystonias arerelated: “We believe focal dystonias are caused by a combination of multiplefactors—a genetic background and an environmental trigger.”

Dr. Hallett explains that the genetic component—which is likely a mutation inone or more genes—lays the foundation for certain individuals to be susceptibleto focal dystonia. Outside factors may then trigger specific symptoms. Scientistshave identified some of these triggers. “In blepharospasm, eye disease can be atrigger,” explains Dr. Hallett. “Spasmodic dysphonia can be triggered by a throatirritation such as infection. Repetitive movement is one kind of trigger for focalhand dystonia.”

Musician’s dystonia is a well-known model of dystonia that appears to be promptedby the repetition of specific movements over a period of time. A similar kind ofdystonia is seen in athletes and other populations whose careers or pastimes requireprolonged practice of highly specific movements. Research is confirming thatmusician’s dystonia appears to have a genetic component, and scientists are activelypursuing specific genes and mutations. Dr. Hallett explains that individuals withvarious focal dystonias frequently have affected family members, which stronglypoints to a genetic predisposition.

Some individuals who develop dystonia associated with repetitive movement only experience symptoms when performinga very specific task. An example of this is the horn player whose symptoms include a loss of control of the embouchuremuscles 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 dystoniaprogresses into other specific tasks that require use of that body part. For example, the tennis player who first noticesthe dystonia in the dominant hand while playing tennis and eventually develops difficulty writing with the hand. Butthis 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 specificityis a fascinating issue,” says Dr. Hallett. “It presents the probability that the brain is organized by tasks—because if thebrain is not built on tasks, how can it fall apart by tasks?”

FOCUS ON FOCAL DYSTONIA

Tasks & TriggersNINDS Lab Focuses On Focal Dystonia

ARTICLE AT A GLANCE• The Human Motor ControlSection at the NationalInstitutes of Health dedicates over 50% of all research activities to dystonia.

• Scientists believe focaldystonias are caused by a combination of geneticfactors and environmentaltriggers.

• While symptoms of focal dystonias vary and can be precipitated bydifferent triggers, the genetic component is likely the same or similar for all forms.

DYSTONIA D IALOGUE 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 needvolunteers. We especially need patients with focal hand dystonia, and we havestudies in blepharospasm and cervical dystonia as well.”

A list of some studies from Dr. Hallett’s lab that are actively recruiting volunteersis 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 towww.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 atMassachusetts General Hospital. He had fellowships in neurophysiology at the NIHand in the Department of Neurology, Institute of Psychiatry in London. Before comingto NIH in 1984, Dr. Hallett was the Chief of the Clinical Neurophysiology Laboratoryat the Brigham and Women's Hospital in Boston and Associate Professor of Neurologyat Harvard Medical School. His research activities focus on the physiology of humanvoluntary movement and the pathophysiology of movement disorders.

Volunteers Needed For Focal Hand Dystonia StudyAn experimental treatment for focal hand dystonia/writer’s cramp is currentlybeing conducted at the University of Minnesota in the Department of PhysicalMedicine and Rehabilitation. This study involves non-invasive stimulation of thebrain using repetitive transcranial magnetic stimulation (rTMS). The team at theUniversity of Minnesota is further investigating the technique to more fullyunderstand 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-specificmovement control problems are being sought to participate. If you are interestedin receiving more information, please contact Teresa Kimberley, PhD, PT at 612-626-4096 or tjk@umn.edu

Genetic Researchers Need Your HelpA collaborative team from Beth Israel Medical Center and Mount Sinai School of Medicine is conducting a study aimed at finding dystonia genes. If there aretwo or more living individuals in your family with any form of dystonia you maybe eligible to volunteer for this important study.

For more information contact:Deborah Raymond, MSBeth Israel Medical CenterPhone: 888-228-1688 or 212-844-6053Email: draymond@bethisraelny.org

What Are The Focal Dystonias?

Focal dystonias typicallybegin in adulthood and affect a specific area of the body. Individuals maydevelop more than one focal dystonia.

The most common focaldystonias include (listedalphabetically, not in order of prevalence):

BlepharospasmDystonia that affects themuscles of the eyelids and brow

Cervical dystonia (spasmodic torticollis)Dystonia that affects theneck and sometimes theshoulders

Hand dystonia (writer’s cramp) Dystonia of the fingers,hand, and/or forearm

Laryngeal dystonia (spasmodic dysphonia)Dystonia that affects thevocal cords

Lower Limb DystoniaFocal dystonia of the leg,ankle, or foot

Oromandibular dystonia(cranial dystonia)Symptoms include forcefulcontractions of the face, jaw, and/or tongue

20 SUMMER 2 0 0 8

FOCUS ON FOCAL DYSTONIA

A Tough Running MateDMRF Member Finishes 41st Boston Marathon

In 1967, Ben Beach was a high school senior listening to coverage of the BostonMarathon on the radio. The weather in Boston was 35 degrees and rainy—prettymiserable 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 longeststreak on record. He estimates that it’s the sixth Boston race with dystonia as hisuninvited running partner.

Modest about his accomplishments, Ben admits it bothers him that his running timesno longer reflect the level of performance he once enjoyed. “It’s satisfying to keep thestreak,” 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 inBen’s left leg in 2002. “It felt

like my legs had no drive in them,” Ben explains. He developeda limp with no pain. Over the years, the symptoms progressed tothe point that the left foot kicked the right shin as he ran, andthe limp began to appear when he walked.

After consulting numerous doctors, Ben was diagnosed withfocal leg dystonia at the National Institutes of Health. Whenone of his physicians showed Ben a journal article about dystonia in runners authored by a movement disorder specialistat Baylor College of Medicine in Texas, he traveled there for a consultation. The appointment at Baylor confirmed thediagnosis 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 remarkablestreak. Since dystonia entered his life, he has used opportunities to speak about running the Boston Marathon as anopportunity to talk about dystonia. “It’s so important to make more people aware, to know that information is outthere,” 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 togive up the streak. “I’ll go back next year,” he says.

Ben Beach holds the secondlongest streak for consecutiveBoston Marathons.

In 2008, Ben completed his 41stconsecutive Boston Marathon—

the second longest streak onrecord. He estimates that it’s the

sixth Boston race with dystonia ashis uninvited running partner.

DYSTONIA D IALOGUE 21

FOCUS ON FOCAL DYSTONIA

Getting A Grip On DystoniaTennis Pro Works Around Hand Symptoms

Like so many others who develop dystonia as adults, Susan Boyer describes theearliest signs of her dystonia as a vague sensation that something wasn’t quiteright. “My arm started feeling funny,” she says, “but at first I didn’t think toomuch of it.”

By the age of 10, Susan was playing tennis every day. Throughout her juniorcareer, she was a top ranked player in Florida and earned national rankings aswell. A tennis scholarship to Florida State University spring boarded her intothe Professional European Tennis Circuit. After a time, she began to focus on a career in software engineering but continued to play in Senior Circuittournaments for competitors over the age of 30. She has since been ranked inthe US top ten—including number one in Florida—for most of the past 15years. At one point, she held a World Ranking of #7 in her age group. Susanis currently third in the nation in the 45 and over age group.

The dystonia began as tightness in her right shoulder that made her servedifficult to control. The symptoms progressed throughout the years to affectmore of her tennis playing and began to affect her handwriting. She taughtherself 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 hadinjections. The dystonia presents itself when she plays tennis and when she writes, and she has found ways to workaround it. “I’m able to function,” she explains. “I’d be a better tennis player without dystonia, but I’m able to compensateand do well.” Ironically, when Susan writes with her non-affected left hand, the dystonia symptoms surface subtly in herright hand. This is a phenomenon known as ‘mirror dystonia’ and is seen in some individuals with focal hand dystonia.

Susan’s dystonia is selective about when and where it surfaces. Her most predictable symptom is a tension and loss ofcontrol in her shoulder immediately before she serves. If she goes through the motion of the serve, for example in herliving room, the symptoms stay away. But if she is on a tennis court and has the intention to complete the serve andhit 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 littledifferent,” 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 toxinor other treatments, but for now the progression is slow and she is content to work around the symptoms. “I’ve hadto 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.”

Tennis pro Susan Boyer developedfocal dystonia in her right arm and hand.

22 SUMMER 2 0 0 8

BOTOX Patient Assistance™ ProgramAllergan, Inc. has an assistance program in place to help eligible patients gain access to BOTOX® (botulinum toxin type A). The BOTOX PatientAssistance™ 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 topatients who are uninsured or underinsured, residents of the United States orPuerto Rico, have income less than or equal to 300% of the federal povertylevel, and have a confirmed diagnosis.

To receive support, patients must apply and demonstrate that they meet the eligibility requirements. For additional information on eligibility require-ments or the application process please visit the website at www.BotoxPatientAssistance.com or call the hotline at 800-44-BOTOX, Option 6.

Reimbursement Assistance For MYOBLOC® TreatmentIndividuals who are prescribed botulinum toxin type B and are uninsured orunderinsured 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 helpyour physician:• Clarify your insurance benefits and determine if your specific plan coversinjectable 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 forMYOBLOC® are submitted accurately to your insurance company

Reimbursement for prescription medicines is determined by each individualinsurance company. Work with your physician’s office to determine whetherMYOBLOC® treatment will be covered under your plan. The SolsticeReimbursement Services Program can help your physician answer this question for you.

For more information on reimbursement services, please call 888-461-2255.

THE ANSWERBy 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 livedwith symptoms of cervicaldystonia with tremor sincethe 1980s. She beganwriting as a way to copewith her disorder. She livesin Georgia, and is an activedystonia volunteer.

Seeing Double?If you are receivingduplicate mailings of the Dystonia Dialogue,please contact us at 800-377-3978 ordystonia@dystonia-foundation.org so that we may correct our mailinglist. Please pass alongthat extra magazine tosomeone who mightbenefit from it.

DYSTONIA D IALOGUE 23

Additional BOTOX® Website Features To Make Life EasierIf you or a loved one have been prescribed botulinumtoxin type A, particularly for cervical dystonia, you can find helpful resources and information atwww.botoxmedical.com. The website includes an

easy-to-usephysician locatortool and a link toa comprehensiveBOTOX®

reimbursementsolutions site.

Many insuranceplans as well asMedicaid andMedicare coverthe cost ofBOTOX®

treatments for certain conditions. If you are receivingBOTOX® therapy or considering it with your doctor,you may have some concerns about insurance coverage.The BOTOX® reimbursement solutions program wascreated to help you and your doctor with questions,claims, and paperwork for reimbursement.

To learn more about the BOTOX® reimbursementsolutions program, go to www.botoxmedical.com and look for the “Insurance Coverage” heading on thelower right side of the homepage and click “learn more.”(You can also go directly to www.BOTOXReimbursementSolutions.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 injectingphysician in your area. The physicians in the networkare trained to administer BOTOX® therapy as well asprovide proper care and answer any questions you mighthave pertaining to therapeutic treatment for selectneurological conditions. When you click on the detailsof a specific physician you are interested in, you will findinformation such as how long he has been a BOTOX®

injector and for which conditions he has been injecting.

Visit www.botoxmedical.com forinformation and resources aboutBOTOX® (botulinum toxin type A)

St. Louis Walk-a-thon Grows In Second Year

The 2nd Annual “MovingForward” St. LouisDystonia Walk-a-thon took place inJune at the scenicCreve Coeur Park.Nancy and LarryPresent organized the event.

Participantsincluded walkers,runners, bikes,rollerbladers, andeven a few four-

legged friends. Attendees selected either a 3K or 5Kroute and were treated to refreshments and a rafflefollowing the walk.

Fabulous entertainment packages were awarded to Amy Present and Kendra Barker for securing the mostpledge money.

Nancy and Larry extend special thanks to eventbenefactor Allergan, to sponsors Medtronic and Solstice,and to the other local companies that supported the eventincluding the Sigma-Aldrich Foundation, Kellwood Co.,J.B. Vending Company, Bandana's Bar-B-Q, Manor RealEstate, St. Louis Dystonia Chapter, Schowalter andJabouri, 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 outpouringof generosity from so many individuals and companies as well as the public awareness the walk-a-thon hascreated in the St. Louis area.”

Larry and Nancy Present hostedanother successful walk-a-thon.

Non-Profit Org.U.S. Postage

PAIDCarol Stream, ILPermit No. 2027

Dystonia DialogueDystonia Medical Research FoundationOne East Wacker Drive • Suite 2810Chicago, Illinois 60601-1905PHONE 312 755 0198 • FAX 312 803 0138EMAIL dystonia@dystonia-foundation.orgWEB www.dystonia-foundation.org

Monthly Program Makes Giving EasyDid you know the DMRF has a new Monthly Donor Plan? This program makes it easy todonate at your own pace by making a contribution each month. These monthly donationsquickly 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 adonation 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 aremore 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 dystonia@dystonia-foundation.org. Start making a difference today!