MAGAZINE OF THE DYSTONIA MEDICAL RESEARCH FOUNDATION | SUMMER 2014 | VOL. 37 • NO. 2

Dystonia Dialogue

4 DMRF-Funded Researchers Discover New Protein

5 Scientific Workshops Inspire Targeted Research

5 Dystonia Moves MeCampaign Makes Awareness Personal

is Connecting the Dots

Inside This Issue4 DMRF-Funded Researchers Discover First

TorsinA Chaperone ProteinBiP Revealed as Potential Therapeutic Target

5 Dystonia Moves Me Promoting Awareness Gets Personal

16 Impact Events Families Use Fun and Imagination to Support the DMRF

20 Participate in Research by Volunteering for a Clinical Trial Studies Offer Access to Cutting Edge Care

23 Personal ProfileMeet Marta Stoeckel-Rogers

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: http://www.dystonia-foundation.org

On the Cover:The DMRF is connecting the dots. When the Foundation first openedits doors in 1976, very little was known about dystonia and how totreat it. Affected individuals and families had no support groups to join or educational materials to read. Virtually no research ondystonia was being done anywhere in the world. Since that time,the DMRF has been building connections between researchers,patients and families, medical institutions, collaborators, supportleaders, and other partners to create a strong community ofsupporters working toward improving the lives of everyone

with dystonia and advancing research toward a cure.

The progress is inspiring. In this issue of the Dystonia Dialogue, you’ll read about the DMRF’slatest efforts in research including the discovery of a new protein that is shedding light on the origins of primary torsion dystonia—read about “Bip” on page 4. On page 8, learn why the DYT25 dystonia gene may be one of the most significant recent advancements towardnew therapies. On page 16 you’ll read how families impacted by dystonia are supportingthese important scientific discoveries, building awareness, and rallying members of the dystonia community by hosting local events.

The Dystonia Dialogue is the magazine of the 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 and a cure, to promote awareness and education,and to support the well being of affected individuals and families.

Dystonia Medical Research FoundationOne East Wacker Drive • Suite 2810 Chicago, Illinois 60601-1905Phone: 312 755 0198 • 800 377 3978Email: dystonia@dystonia-foundation.orgWeb: www.dystonia-foundation.org

The Dystonia Dialogue reports on developmentsin dystonia research and treatments but does notendorse or recommend any of the therapeuticsdiscussed. Individuals are urged to consult aphysician with questions and concerns abouttheir symptoms and care.

StaffJanet L. HieshetterExecutive DirectorDebbie DurrerDirector of DevelopmentKathleen BehnerDirector of OperationsLarquana BryanInformation Coordinator Jessica FeeleyEditor and Special ProjectsMartha MurphyBrain Bank LiaisonEmma PintoDevelopment AssociateJody RooseveltScience and Technology ManagerJan Teller, MA, PhDChief Scientific Officer

Printed in the USA.© Dystonia Medical Research Foundation

Partial support of the Dystonia Dialogue is provided by educational grants from Allergan, Inc.and Merz Pharmaceuticals.

DYSTONIA DIALOGUE 3

ART KESSLERPRESIDENT

JANET L.HIESHETTEREXECUTIVE DIRECTOR

Art Kessler Janet L. HieshetterPresident Executive Director

Foundation UpdateDear Friends,

The Merriam-Webster dictionary defines awareness as knowing that something exists. It alsodefines awareness as knowing and understanding what is happening in the world or around you.

Before humans had writing, we shared knowledge and experiences by storytelling. The breadthof human discovery was passed along from one person to the next. Telling stories has propelledhuman survival and progress across generations—and across eras of history. Even in the presentatmosphere of pervasive advertising and flashy media technology, we continue to learn throughstories. The experience of a single person has the power to influence countless lives. The desireto describe what happens to us is part of human nature. There are more ways than ever for individuals to share their stories with other people and the world.

The act of bringing stories from the dystonia community to the public is a cornerstone of creatingdeeper dystonia awareness. Building dystonia awareness is critical to achieving our ultimategoal of a cure and to providing resources to affected individuals and families, especially thosewho have yet to be diagnosed. The DMRF is grateful to everyone who generously uses theirdystonia experience to educate others. For many it is a passion; for some it’s something they doinstinctively without a second thought, and perhaps without realizing the power of their actions.

In this issue of the Dystonia Dialogue, we invite you to help create meaningful dystonia awarenessby telling your story. See page 5 and join “Dystonia Moves Me,” a campaign of individuals acrossthe country who are promoting dystonia awareness simply by sharing how dystonia affects theirlives. We welcome everyone and anyone to join this effort. Devin McClernan shared his story ina documentary film that won the Grand Prize at the 2014 Neuro Film Festival and was premiered toan audience of 5,000 neurologists—a tremendous victory for awareness. Learn more on page 7.

Creating dystonia awareness is a process. Many of us are waiting for that jackpot moment whena dystonia video goes viral online or a famous pop star decides to make the DMRF her favoritecause. We continue to be watchful for that opportunity. Until that day, we celebrate the numerousnews pieces that have reached national and local media, the multiple award-winning documentaryfilms, progress in legislative advocacy, and the moments our members take every day to bringvisibility to dystonia in their own way. The most effective operators in dystonia awareness are,without exception, those who feel the impact of dystonia each day and use their stories to helpothers understand.

We are a community willing to do whatever it takes to move dystonia into a wider public audience.The successes we have had are the best predictors of the success yet to come. Together we aremaking a difference and giving voice to dystonia stories across the country and beyond. Thank you for sharing your stories and continuing to help improve dystonia awareness.

4 SUMMER 2014

A study co-funded by the DMRF reveals a critical new clue about theorigins of dystonia. Since 1997, scientists have known that a mutatedprotein called torsinA causes one of the most severe primary torsiondystonias, but the function of theprotein remains unknown. A teamof researchers has made importantheadway by uncovering a close relationship between torsinA andBiP, a well-studied cellular proteinthat was not known to have an association with dystonia until now.

Dystonia is believed to result fromimproper signals in the nervous system that instruct muscles to contract involuntarily. Researchersdo not yet fully understand the neurological mechanisms that causethe abnormal muscle contractions.

Jeffrey Brodsky, PhD, Professor andAvinoff Chair of Biological Sciencesat the University of Pittsburgh, andMichal Zolkiewski, PhD, AssociateProfessor of Biochemistry and Molecular Biophysics at Kansas State University, co-led a study that useda sophisticated yeast cell model toinvestigate several proteins that interact with normal torsinA and its dystonia-causing mutant. Thecell proteins belong to a family of chaperones, which are moleculesthat help other proteins take shapeand function properly or, in case of faulty proteins, disassemble anddeactivate them. When torsinA is mutated, it cannot function

properly and becomes a target for chaperones— and particularly for BiP, which appears necessary to degrade mutant torsinA. BiP stabilizes both normal and mutatedtorsinA in mammalian cells; it is the first identified chaperone to act on torsinA.

Dr. Brodsky explains, “For the first time we identified a cellularprotein—known as BiP—that helpstorsinA attain its proper shape inthe cell. Because drugs that targetcellular helpers such as BiP are indevelopment, we hope that thesemight someday be used to treat primary torsion dystonia.”

The study also found that secondary mutations in torsinAamplify the effects of the defectiveprotein when the dystonia-causingmutation is present.

Brodsky laboratory is known for itsexpertise in studying cellular proteinsin yeast. The yeast genome makes itpossible to conveniently track genesand proteins, especially those thathave human equivalents, making it avaluable model for research on humandiseases. Although the discovery thatthe BiP protein modulates torsinAfunction was made in yeast, the researchers were able to validate the results in human cells.

“The next step is to identify other cellular helpers that impacttorsinA,” says Dr. Brodsky. Thiswork is now conducted by DMRFresearch fellow Lucia Zacchi, PhD,Research Associate at Fundacion Instituto Leloir in Argentina. Dr. Brodsky adds: “Additional proteins from her continued analysismight one day also be targets ofnewly developed drugs to treat primary torsion dystonia.”

Citation: The BiP Molecular ChaperonePlays Multiple Roles during the Biogenesisof TorsinA, an AAA+ ATPase Associatedwith the Neurological Disease Early-onsetTorsion Dystonia. Zacchi LF1, Wu HC,Bell SL, Millen L, Paton AW, Paton JC,Thomas PJ, Zolkiewski M, Brodsky JL. J Biol Chem. 2014 May 2;289(18):12727-47. doi: 10.1074/jbc.M113.529123.[Epub ahead of print]

DMRF-Funded Researchers Discover First TorsinA Chaperone ProteinBiP Revealed as Potential Therapeutic Target

ARTICLE AT A GLANCE

• Researchers have uncovereda relationship between twocellular proteins: torsinA and BiP.

• BiP is a well-studied proteinthat was not previously associated with dystonia.

• BiP stabilizes normal andmutant torsinA. It is the first torsinA chaperone ever discovered.

• Drugs that target BiP are in development and mayeventually be candidates for treating dystonia.

DYSTONIA DIALOGUE 5

For decades the DMRF has brought experts together fromaround the world at scientific workshops to assess a specific aspect of dystonia research and develop a strategyto advance understanding in that area. Since 1976, theDMRF has organized nearly 30 scientific meetings andworkshops that have proven to be critical to scientificprogress. Important—often unexpected—new directionsand collaborations result from every meeting.

Beginning in 2014, the DMRF will continue to host scientific workshops on the most pressing topics in thefield, and one of the outcomes from each workshop willbe a request for relevant research proposals. Kicking offthis new approach to identifying and supporting key research projects was a workshop entitled, Receptor Neuropharmacology in Dystonia, February 27–28, 2014in Miami. Neuropharmacology is the study of neuronsand their neurochemical interactions for the purpose of developing medications that benefit the brain andnervous system. Chaired by Jonathan Brotchie, PhD ofToronto Western Research Institute and P. Jeffrey Conn,PhD of the Vanderbilt Center for Neuroscience DrugDiscovery, the meeting brought together leaders fromacademia, industry, and the National Institutes of Healthto discuss current trends in receptor neuropharmacologyin dystonia and related movement disorders. In the wakeof the meeting, the DMRF released a request for proposals.Funding will begin this summer, and grants will be announced in the next issue of the Dystonia Dialogue.

Receptors are a hot topic in dystonia research becausethey are convenient targets for drug development. Receptors are the gatekeeper proteins that control howneurons receive signals from one another. The recentworkshop was part of the DMRF’s efforts toward drugdiscovery and development, as well as finding existingtherapies that are relevant to dystonia.

In the fall, the DMRF will host a workshop on imaging and networks and expects to release a requestfor proposals in the following months.

Scientific Workshops InspireTargeted Research

September is Dystonia Awareness MonthWhat are you doing to create dystonia awareness?

Tell us at awareness@dystonia-foundation.org

Dystonia is a movement disorder—it also moves people to take action, forthemselves or on behalf of a loved onewho has been diagnosed. Dystonia Moves Me is a campaign of individualsacross the country who are promoting

dystonia awareness by sharing their stories.

The DMRF is inviting everyone who has been affectedby dystonia to share their stories with 30 people duringthe 30 days of Dystonia Awareness Month in September.Sharing your story—telling someone how dystonia haschanged your life or the life of someone you love—willpromote a deep and lasting awareness in the people youreach. While national media coverage on dystonia is alwayssomething to be celebrated, Dystonia Moves Me cuts throughthe media noise competing for the public’s attention by bringing awareness close to home. Today’s public isinundated with advertising and marketing messages—much of which is ignored or tuned out. Unless someonepersonally knows somebody who is living with a raredisorder, even the most sophisticated public relationscampaign might not make it stick.

You can help others understand what dystonia is and whatit does to those who are affected. You will help put a faceto the word dystonia. Your story will make dystoniamemorable and create a deeper, lasting awareness.

The DMRF has created a Dystonia Moves Me kit to helpyou reach 30 people in 30 days. You can request a kit bymail that includes suggestions on how to reach people,educational materials, and stickers and buttons with theDystonia Moves Me emblem to provide the people youreach as a token of the campaign.

To request a Dystonia Moves Me kit, email awareness@dystonia-foundation.org. For more information, visit:www.dystonia-foundation.org/dystoniamovesme.

Dystonia Moves MePromoting Awareness Gets Personal

6 SUMMER 2014

A team of researchers at the University of Michigan led byWilliam Dauer, MD, Associate Professor of Neurology, has publishedan extremely comprehensive and detailed study linking abnormaltorsinA to loss of cells in specificbrain structures responsible formovement and overt dystonia symptoms in mice.

“This work is a natural extension of our earlier studies, supported by DMRF, which showed that theDYT1 mutation impairs torsinAfunction,” explains Dauer. “What is new about this study—and veryexciting to us—is linking impairedtorsinA function to the onset of abnormal dystonic movements.”

Dr. Dauer and colleagues have beenworking for years to figure out howand why a mutation in the DYT1gene results in a specific form ofchildhood onset dystonia. In thisstudy, published in the Journal ofClinical Investigation, Dauer focusedon developmental aspects of DYT1dystonia, which typically starts inchildren between the ages of 8 and 11,seemingly out of nowhere, followinga normal early childhood. However,even if a child has the DYT1 genemutation known to cause this form ofdystonia, if he/she reaches adulthoodwithout symptoms, the likelihood ofever developing dystonia is reduced tonext to nothing. This suggests specificchanges in the early stage of brain

development make the nervous system vulnerable to the effects of the genetic mutation. Once that window of time has passed, for unknown reasons, the risk of dystonia essentially disappears.

Dauer and his team have developeda genetic mouse model of DYT1dystonia that mimics the humandisorder. These genetically engineeredmice demonstrate overt movementsymptoms of dystonia, marked bypatterned twisting and fixed posturesin the limbs. The symptoms appear inyoung mice at a stage of brain devel-

opment equivalent to the typicalhuman age of onset. These mice provide a unique and direct opportunity to study the effects of abnormal torsinA in the brain.

The mouse model reveals a correlation between abnormaltorsinA and neurodegeneration, the death of brain cells. Recent imaging studies have also observedsubtle cell loss in specific brainstructures in select dystonias. However, unlike in Parkinson’s disease or Alzheimer’s disease, inwhich neurodegeneration progressesaggressively over widespread areas of the brain, the neurodegenerationseen in the DYT1 mouse model occurs only in specific brain structuresinvolved in movement control andonly for a specific period of timethat coincides with the onset of dystonia symptoms.

Dauer explains: “We’ve created amodel for understanding why certainparts of the brain are more vulnerableto problems from the DYT1 genemutation responsible for dystonia.In this case, we’re showing that indystonia, the lack of this particularprotein during a critical window oftime is causing cell death.”

The research indicates that the loss of even a small number of brain cellsfrom specific structures in the braincould disrupt the development ofcircuits critically involved in move-

DMRF-Funded Research Reveals Surprising New Findings about DYT1 DystoniaTorsinA Protein Linked to Dystonia Symptoms and Loss of Brain Cells

ARTICLE AT A GLANCE • Researchers have developeda mouse that models thesymptoms and age ofonset of DYT1 dystonia.

• Mutated torsinA appears to cause loss of cells inspecific brain structures for a period of time.

• This work makes unprece-dented connections betweenimpaired torsinA function,neural circuits, and dystoniasymptoms.

• The discoveries from thiswork may ultimately lead tointerventions that protectbrain cells from the effectsof abnormal torsinA.

DYSTONIA DIALOGUE 7

ment. Previous studies have shown that torsinAis engaged in the quality control of other pro-teins in the cell, so surviving brain cells may beimpaired due to torsinA’s inability to functionproperly when mutated.

The study makes a critical, experimentally testableconnection between impaired torsinA function,neural circuits, and dystonia symptoms—a tourde force of experimental neuroscience that opensup countless opportunities for future studies. Themouse model will be available to other researchersto help accelerate understanding of all forms ofdystonia and the search for treatments.

Work in the Dauer lab continues as well: “We arepursuing several lines of work stemming directlyfrom these studies. One question we are pursuingis why some, but not other, neurons are injuredby deficient torsinA function. We think this is acrucial piece of the puzzle to unravel, because ifwe understand why some neurons are able towithstand the effects of the DYT1 mutation, wemay be able to mimic that difference to protectthe vulnerable cells. Another direction we arepursuing is using these mice to test potentialtherapeutics and—with colleagues here at University of Michigan including DMRF-funded investigator Dr. Dan Leventhal—to better understand the changes in brain circuitrythat are causing the abnormal movements.”

In 2006, William Dauer was the very first recipient of the Stanley Fahn Award, theDMRF’s most prestigious research grant. He is a past member of the Medical & ScientificAdvisory Council. Co-author Lauren Tanabe, PhD,was awarded a two-year DMRF research fellowship in 2011.

Citation: TorsinA Hypofunction Causes Abnormal TwistingMovements and Sensorimotor Circuit Neurodegeneration.Liang CC, Tanabe LM, Jou S, Chi F, Dauer WT. J ClinInvest. 2014 Jun 17. pii: 72830. doi: 10.1172/JCI72830.[Epub ahead of print]

The DMRF extendscongratulations toDMRF memberDevin McClernanfor winning theAmerican Academyof Neurology (AAN)2014 Neuro Film Festival Grand Prize for his outstanding film,Dystonia Devin. The Neuro Film Festival is an annual contestpresented by the American Brain Foundation to raise awarenessabout why more research is needed to cure brain diseases.

Dystonia Devin provides a snap shot into Devin’s experiencewith dystonia since his symptoms began at age 13. It premieredApril 30 during the AAN’s 66th Annual Meeting in Philadelphiato an audience of 5,000 neurologists—promoting awarenessand providing inspiration to others in the dystonia community.

Mark Hallet, MD, Chief of the Movement Control Section at the National Institute of Neurological Disorders and Strokewas among the audience. “It’s wonderful that Devin has beenwilling to share his story publically. I’m sure it will give otherpatients hope. Devin is not only a strong person, but also a fine cinematographer.”

To learn more about Devin, and to view the five-minute filmon the DMRF website, visit: http://tiny.cc/dystoniadevin.

Dystonia Documentary Wins Grand Prize at 2014 Neuro Film Festival

Stay in Touch! Sign up for the DMRF's monthly e-newsletter for the latest updates and announcements: http://tiny.cc/dmrfenews

8 SUMMER 2014

Research Reality Check With Chief Scientific Officer Jan Teller“GNAL: A Well-Connected Protein”

Help Researchers Find a Cure: Registeras a Brain Donor Today

Brain donation is aprecious gift thatanyone can giveto the dystoniacommunity. Registering as a

brain donor costsnothing financially

but provides dedicated researchers withimportant clues in their quest to betterunderstand this complex disorder. Byregistering as a brain donor, you aremaking an invaluable contribution to dystonia research that will bring uscloser to a cure.

The brain recovery process does not interfere with funeral or memorial services or affect the outward appearanceof the donor. The DMRF encouragesindividuals with all forms of dystonia to consider becoming brain donors.Donors must reside in the United States.(Individuals in Hawaii and Alaska shouldcontact the Brain Bank Liaison for information specific to those states.)Donors may withdraw from the program at any time.

The DMRF partners with the Harvard Brain Tissue Resource Center(HBTRC) at McLean Hospital in Belmont, Massachusetts. Recoveredbrains must arrive at the HBTRCwithin 24 hours from time of death.Learn more about the program andbegin the simple registration process atwww.dystonia-foundation.org/brain.Or request information by mail by contacting Martha Murphy, Brain Bank Liaison, at brainbank@dystonia-foundation.org or calling 800-377-3978.

As researchers continue to discover genes responsible for dystonia, it becomes more difficult to keep them all straight. (Just in caseyou don’t yet know by heart every name andabbreviation of all dystonia genes, a cheat sheetis included with this column.) One discoveryin particular that is generating a lot of buzz isthe GNAL gene and its protein, Gαolf.

What’s the big deal about one more gene andanother unpronounceable protein? GNAL may

be one of the newest genes associated with dystonia, but researchers inother fields have studied it for years and we can now benefit from theknowledge and tools they developed.

GNAL might play a pivotal role in several forms of dystonia, includingnon-genetic dystonias. We know that Gαolf is critical for mediatinghow neurons respond to dopamine, a neurotransmitter critical formovement control. The protein also interacts with adenosine receptors—also implicated in dystonia. The protein is pretty well-connected! Simply,researchers can now place Gαolf at a strategic juncture where “decisions”about neuronal communication, and ultimately movement, are made.This is a first: finding a link between a “dystonia protein” and movementcontrol in the brain.

Unlike most of the other proteins associated with dystonia, Gαolf mightprovide an opportunity for pharmacological interventions to manipulatedystonia-specific signaling inside neurons—and that may lead to noveltreatments. The defects in Gαolf cause DYT25 dystonia, but they mayalso reveal universal mechanisms that affect movement control in otherdystonias. We just have to continue to chip away at understanding howthis intricate web of proteins with fancy names really works.

Do you have a question about dystonia research

that you would like the DMRF to address in the

Dystonia Dialogue? Email your research questions

to dialogue@dystonia-foundation.org

DYSTONIA DIALOGUE 9

Genes & Proteins Associated with DystoniaMutations in specific genes cause certain types of dystonia. Here is a chart of DYT-designated genes and gene markers associated with dystonia, the proteins they encode, and forms of dystonia. Please note that this is not a comprehensive list of all genes associated with dystonia. Many disorders in which dystonia is a consistentand dominant feature were described before the DYT labels came into use.

Designation Gene Protein Dystonia DYT1 TOR1A TorsinA Early onset generalized torsion dystonia DYT2 Unknown Unknown Early onset segmental torsion dystoniaDYT3 TAF1 Transcription initiation X-linked dystonia parkinsonism

factor TFIID subunit 1 DYT4 TUBB4a β-tubulin 4a Primary laryngeal and cervical dystonia

- whispering dysphoniaDYT5/DYT14 GCH1/TH GTP cyclohydrolase 1/ Dopa-responsive dystonia

Tyrosine 3-monooxygenase

DYT6 THAP1 THAP domain containing, Adolescent onset torsion dystonia of mixed typeapoptosis associated protein 1

DYT7 Unknown Unknown Adult onset focal cervical and laryngeal dystoniaDYT8 PNKD1/MRI Myofibrillogenesis Paroxysmal nonkinesigenic dyskinesia

regulator-1DYT9 SLC2A1/GLUT1 Glucose transporter Paroxysmal choreoathetosis with episodic ataxia

protein type 1 and spasticityDYT10 PRRT2 Proline-rich Paroxysmal kinesigenic choreoathetosis

transmembrane protein 2DYT11 SGCE Epsilon-sarcoglycan Myoclonus-dystoniaDYT12 ATP1A3 Sodium/potassium- Rapid-onset dystonia-parkinsonism

transporting ATPase subunit alpha-3

DYT13 Unknown Unknown Multifocal/segmental dystoniaDYT15 Unknown Unknown Myoclonus-dystoniaDYT16 PRKRA Protein kinase, interferon- Young onset dystonia-parkinsonism

inducible double stranded RNA dependent activator

DYT17 Unknown Unknown Autosomal recessive primary torsion dystoniaDYT18 SLC2A1 Glucose transporter Paroxysmal exertion-induced dyskinesia 2

protein type 1DYT19 Unknown Unknown Episodic kinesigenic dyskinesia 2DYT20 Unknown Unknown Paroxysmal nonkinesigenic dyskinesia 2DYT21 Unknown Unknown Late onset primary torsion dystoniaDYT23 CIZ1 CDKN1A interacting zinc Primary cervical dystonia

finger protein 1DYT24 ANO3 Anoctamin 3 Primary cranial and cervical dystoniaDYT25 GNAL Guanine nucleotide- Primary dystonia of varied anatomical symptoms

binding protein G(olf), and age of onsetsubunit alpha

Learn more about the genetics of dystonia at www.dystonia-foundation.org

10 SUMMER 2014

Dystonia Advocates Push for Increased FederalFunding for Medical Research and Access to Care

In an annual visit to Washington, DC,DMRF advocates joined others affiliated with the Dystonia AdvocacyNetwork (DAN) on April 8–9, 2014to ask lawmakers for increased funding for the National Institutesof Health, inclusion of dystonia in the Department of Defense (DOD)

Peer Reviewed Medical Research Program, and protectionsfor access to care and treatment. Dystonia advocates participated in 150 meetings with Members of Congressand staff to discuss the needs of the dystonia community.

First-time advocate Rebecca Sharp of Pennsylvania remarked, “Taking part in something as impactful as Advocacy Day goes beyond any fundraising and awarenessactivities I have ever done. It is in a category all on itsown of ‘making a difference’ that connects you with otherswho have been impacted by dystonia as well as the peoplewho have the authority to make decisions and implementchange that affects the entire dystonia community nationwide.”

Advocate Stefanie Zaia presented Senator RichardDurbin with the 2014 Dystonia Advocacy Network Distinguished Public Service Award. Senator Durbinwas instrumental in increasing the amount of fundingavailable for research through the DOD Peer ReviewedMedical Research Program. The amount of fundingavailable to support research projects selected by the review committees is $200 million, which is $150 million more than the previous fiscal year.

Several advocates worked with reporters upon returningfrom Advocacy Day to share their experiences and storiesin local news media, extending the impact of DystoniaAdvocacy Day beyond the two-day event in Washington.

In addition to convening on Capitol Hill each spring,the DMRF and other DAN member organizations workthroughout the year on relevant legislative and policymatters. Dystonia advocates are meeting with Members

of Congress in their home districts to discuss dystoniaresearch funding and these ongoing efforts are especiallycritical to keeping dystonia included in the DOD Peer Reviewed Medical Research Program. As an example ofthe impact of these ongoing efforts, dystonia researchersDrs. Pedro Gonzalez-Alegre and Charles Harata recentlyreceived funding for their work through the DOD PeerReviewed Medical Research Program. Dystonia was included on the list of conditions included in DOD research because of the hard work of the DAN and the many advocates who collaborated in this effort tomaximize federal research funding.

The member organizations of the DAN are Benign Essential Blepharospasm Research Foundation, DySTonia, Inc., the Dystonia Medical Research Foundation, the National Spasmodic Dysphonia Association, and the National Spasmodic Torticollis Association.

If you are interested in participating in the DMRF’s advocacy efforts, please contact us at dystonia@dystonia-foundation.org or 312-755-0198.

L to R: NSDA Executive Director Kimberly Kuman,Diane Zaia, Stephanie Zaia, and DMRF Executive DirectorJanet Hieshetter met with Senator Durbin in his CapitolHill office to present him with the DAN Distinguished Public Service Award.

DYSTONIA DIALOGUE 11

About Kylie McPhersonDystonia struck Kylie when she wasin high school. She was diagnosedwith myoclonus-dystonia years afterthe symptoms began and just priorto departing for her freshman yearof college. At just 19 years old, Kylie was invited to present heroriginal dystonia research at the 5th

International Dystonia Symposiumin Barcelona in 2011. She worked asa Clinical Researcher at Cedars SinaiMedical Center alongside MicheleTagliati, MD, one of the world’s lead-ing movement disorder experts. Sheis currently building her neurosciencebackground as a Post-BaccalaureateResearch Fellow at the National Institute on Drug Abuse. She has beenfeatured previously in the DystoniaDialogue in a Personal Profile.

About Hannah Robinson Hannah was diagnosed with dopa-responsive dystonia at age seven,three years after symptoms began.Although her symptoms are nowmanaged by medication, she acutelyrecalls the upsetting doctors’ visits,her parents’ fears, and how she wasmistreated by other children. Hannahbelieves that as someone who liveswith dystonia, she is in a special position to bring greater visibility to the disorder and provide the disabled community with a platformto speak and be heard.

About Rosemary YoungSince Rosemary’s son Kavin was diagnosed with generalized dystoniaabout a year ago, she began advocat-ing for her child by educating herself about dystonia and sharinginformation with family, friends, her community, and even strangers.This spring, the Young family participated with others with dystonia in a clinic day panel toshare their stories with medical students at Wayne State University.She created and manages the

Michigan Dystonia Awareness page on Facebook and organized the first—and extremely successful—Dystance4 Dystonia Detroit ZooWalk on June 22, 2014 that attracted500 attendees. Her goal is to helpthose with dystonia and their familiesnot just cope with the disorder buthave opportunities to live their livesto the fullest.

About Stephanie ZaiaAfter four years of escalating symptoms, Stephanie was diagnosedwith early onset dystonia in her late teens. Stephanie is a longtimesupporter of the DMRF. She hasparticipated in Dystonia AdvocacyDay and attended numerous DMRFevents. Stephanie has shared herstory with local news media, university news outlets, and in the Dystonia Dialogue. Stephanie isconsistently starting conversationsabout dystonia by proudly wearingawareness wristbands and t-shirts.Her sister Julie Banks has competedin five marathons to support theDMRF in her honor; awareness is apassion the entire Zaia family shares.

The DMRF looks forward to continue working with these stellaradvocates to advance the dystoniacommunity’s legislative and policyagenda.

The DMRF was extremely proud to announce the 2014 Douglas Kramer Young Advocate Award recipients:

Kylie McPherson, Hannah Robinson, Rosemary Young, and Stephanie Zaia. These exceptional volunteers

were recognized for their dedication to serving the dystonia community through advocacy and are working

with the DMRF throughout the year on various initiatives at federal and state levels.

Douglas Kramer Advocate Award Recipients Recognized at Advocacy Day

L to R, back row: Rosemary Young,DMRF Executive Director JanetHieshetter, Hannah Robinson, KylieMcPherson; front: Stephanie Zaiaand Izzy.

12 SUMMER 2014

New DMRF Website is a Resource for Patient and Research Communities Dystonia 101

Dystonia can be a confusing disorder to understand.It never hurts to brush up on the basics:

• Dystonia is a neurological movement disorder. It affects the ability to control voluntary musclemovements.

• Dystonia does not affect smooth muscles, such as the heart.

• There are many forms of dystonia. It can affect a single body area or multiple muscle groups.

• Each case of dystonia is classified by the clinicalfeatures and what is known about the cause.

• In cases of isolated dystonia, dystonia is the onlymovement symptom present, with the exception of tremor.

• In cases of combined dystonia, dystonia occurs in combination with other movement symptomssuch as myoclonus or parkinsonism.

• Inherited dystonias are those with a proven genetic origin, for example mutations in the DYT-designated genes such as DYT1, DYT5, or DYT11.

• Acquired dystonias are due to a known specific life event or series of events, for example birth injury, drug exposure, brain injury, infection, andother factors.

• People with acquired dystonia often have otherneurological symptoms, some of which may affectmore than just muscle movement.

• Many cases of dystonia are idiopathic, meaningthat there is no identifiable cause. Many of thefocal dystonias that occur in adulthood fall underthis category.

• Treatment options include oral medications, botulinum neurotoxin injections, surgery, and less invasive methods such as physical or occupational therapy and relaxation practices.

• Stress does not cause dystonia, but symptomsmay worsen in stressful situations.

For more information, visit www.dystonia-foundation.org

The DMRF is proud to announce the launch of a newwebsite (www.dystonia-foundation.org). Visitors to theupdated site will enjoy easier navigation, a new design,and added resources. Whether you visit the site using aPC, tablet, or mobile phone you will have full access toall the valuable content.

The new website was built to reflect the feedback we havereceived from members and the research community.Just some of the new-and-improved features include:

A home page that makes it easier to find what you need – More intuitive links invite you into the site, and an improved search function gets where youwant to go, all with the fewest clicks.

An information hub for researchers – Dystonia investigators and clinicians have easy access to information describing all aspects of the DMRF’s research activities and programs.

Resources to help you connect – It’s easier than ever to find a community event, locate a support group, ordiscover online forums to connect with others in thedystonia community.

We encourage you to bookmark the site, check backoften, and connect with the DMRF on Facebook, Twitter,and Google+ for announcements as updates and newcontent are added.

DYSTONIA DIALOGUE 13

On April 21, 2014, DMRF supporter Ben Beach ran his 47th

Boston Marathon, claiming the record for the most consecutiveBoston Marathon races in history. He has competed about a dozentimes since developing focal leg dystonia, which has severely impactedhis gait. Ben uses each marathon as an opportunity to promote dystonia awareness by sharing his story in the local media, both inBoston and his home state of Maryland. The DMRF congratulatesBen for this remarkable accomplishment and for inspiring others inthe dystonia community and beyond. His record breaking race iseven more profound given the events of last year when a lethalbombing attack brought the Boston Marathon and surroundingmetro area to a standstill. The Dystonia Dialogue recently caught up with Ben for a brief interview.

DD: What was it like to be back in Boston, especially given the events of last year?BB: There was an electric current running through Boston this year. There’s always a special feeling in the city onmarathon weekend, but it was extra special this year. Since I was stopped before reaching the finish line last year, I was particularly eager to turn the corner onto Boylston Street and run that home stretch again.

DD: How do you feel about being the record holder for most consecutive Boston Marathons? BB: I enjoy finally having the record after so many years of being number two. Of course, it does create additionalpressure. I probably didn’t start thinking much about the streak until I’d run about 10. It’s just something I grew tolook forward to every spring. I intend to keep at it until my body refuses to cooperate. I thought that dystonia wouldend my running career, but my legs adjusted to the dramatic change in the movement of my left leg and have allowedme to run without constant injuries.

DD: How did the race go? BB: I had a decent first half, but then the heat and my limited training began to take a toll. Because of some faintnessthat probably was due to dehydration, I decided I’d better walk it in from the 22-mile mark. I ran about an hour slowerthan I’d planned. This year, as in most other long races, I felt that my dystonia eased up over the last 10 miles or so.My stride seemed smoother. It’s almost like my brain just tires of sending the signal that interferes with my hamstring’snatural motion and screws up my stride. No doctor has ever blessed that theory, but it seems at least plausible.

DD: How are you doing, overall? How does your dystonia affect you in your daily life and activities?BB: Dystonia entered my life 12 years ago and got worse over the next few years. Once I was diagnosed and startedgetting botulinum neurotoxin injections, I improved a bit and now seem to have plateaued. I walk with a limp, butit’s not too bad, and at least there’s no pain. The main impact on my life involves running. My gait is a mess, so I’mmuch slower. And I cut back my training dramatically to avoid injury that I think would result if I ran too much withsuch an unbalanced stride. I am grateful, though, that I can still run and be part of the Boston Marathon. I also amrelieved that it doesn’t affect my bike riding. I am indebted to the people at NIH [National Institutes of Health] whohave helped me deal with dystonia.

Ben Beach has completed more Boston Marathonsin a row than anyone in the world. He is picturedwith daughter Emily.

Ben Beach Claims Record forConsecutive Boston Marathons

14 SUMMER 2014

For years I felt as though I had aroommate living inside my bodywho controlled my movements. Ihave generalized dystonia, with noknown cause, predominated by choreiform movements (also calledchorea). Untreated, I am in constantmotion. I have trouble coordinatingmy legs to walk. I look drunk or excessively fidgety. When trying tosit still, my body gradually twists,from torso to neck and head, and my legs wrap around the chair legs. I find myself twisted and lookingdown at my chest for no reason. If Irealize what has happened and focusmy thoughts, I am able to untwist mytorso, head, and limbs—only for theprocess to start all over again. The constant motion is exhausting. I could do little more ina day than care for myself. It took all my energy to keepmyself fed and bathed and my personal matters in order.I had a constant flow of energy inside of me, like a lightbulb constantly burning. It was wasted energy that drainedme. Some days I was too tired to fix meals. I lost weightthat I have never regained. For three years I lived house-bound and on my own. Multiple visits to neurologistsprovided no answers as to why I could not control mybody. I had no relief.

I had the good fortune to have a free session with aphysical therapist who took an interest in learning aboutmy condition and working with me. When she learnedthat I had no treatment or doctor helping me, she recommended a neurologist. After having seen manyneurologists with no luck in diagnosis or treatment, Iwas skeptical but trusted her when she said he wouldtake an interest in my case.

I had the best fortune that not only did the neurologistdiagnose my condition during my first visit, but he alsoordered tests to rule out causes. He determined that my

dystonia was idiopathic and beganpursuing treatment with prescriptions.We tried medication that did notwork for me. I felt worse. My doctormentioned I might be a candidate fordeep brain stimulation (DBS). He alsomentioned a drug called tetrabenazinethat had recently been approved for use in the United States to treatHuntington’s disease. I knew thatDBS was very successful for somepeople and had all but eliminatedtheir symptoms in some cases, but I wanted to pursue non-surgical options first. I feel lucky that thisneurologist had a good workingknowledge of this drug. He recom-mended I read about it to make sure I wanted to try it. The cost and side

effects can be significant; the approval process for insurancecan be lengthy. My doctor’s office helped me file the paperwork to get insurance approval for off-label use. As soon as I was approved, I was contacted by a non-profitorganization that offers a program to help make the medication more affordable. I didn’t even know suchprograms existed and am grateful every day for the assistance I receive.

Some of the potential side effects are serious, includingdepression and suicidal thoughts. Between conversationswith my doctor and the literature he provided, I was veryclear on the risks before I started taking the medicine.When I began my prescription, I saw my doctor once amonth so that he could monitor my dystonia and thedosage. We started at the lowest dose and gradually increased it. After one of the increases, I became depressed.

Elizabeth Schultz was home bound for years before she discovered thetreatment plan that works best for her.

My Treatment JourneyBy Elizabeth Schultz

Medications are approved by the Food and Drug Administration for specific illnesses or conditions but, once approved, doctors are permitted to

prescribe the medications ‘off-label’ for other uses.

DYSTONIA DIALOGUE 15

I felt lousy. Knowing that the medicine could be the cause, I spoke to my doctor. We lowered the dose and the depression went away. On the lower dose, I don’thave any depression and the medicine is very effective. I have noticed that the medicine causes fatigue, but I amless fatigued now than when my dystonia wasnot being treated, so I can handle it.

Stress will still cause my movement symptoms tomanifest, so I have to structure my life to mini-mize stress even while taking the medication.

Today my life is full of activity I neverimagined possible a few years ago. I canpush a shopping cart rather than usethe electric cart. I park in regularparking places and walk, rather thanlook for the closest handicappedspace. I am not too tired to preparemy meals. I get together withfriends. Best of all I can exercise.Swimming also helps keep mymovement calm and regular.

Now it’s hard for others totell I have dystonia. Thetetrabenazine makes my“roommate” take a nap.Oddly enough, sometimes I miss that other person. I had learned to live with her. But I don’t miss the involuntarymovements.

I don’t look drunk. I no longer twist. I can coordinate my legs to walk. I sit in a chairwithout wrapping my legs around it. Themedicine calms my movements and that internal electric energy. I feel calm on the inside. While I am not able to work, I cansay that I have a good quality of life. It hasbeen over four years since I started the medication and am still amazed at the positive difference it has made for me.

Elizabeth Schultz is a lifelong resident of Minnesota. She was diagnosed with generalized dystonia in 2009 at age 45, afterthree years of symptoms, doctor visits, and medical tests. She is a CPA and worked in international accounting for a majoragribusiness. Currently unable to continue her work as a CPA due to dystonia, she co-leads the Minnesota Dystonia SupportGroup and volunteers for various causes.

Developing a Treatment Plan

3There are many forms of dystonia, andtreatment will vary from person to person.

3Doctors and individuals with dystonia mustwork together to discover the combination oftherapies that works best in each case.

3There are numerous treatment options, not all ofwhich are appropriate for everyone. A therapy thatbenefits one patient may not necessarily work as well for another. Individuals may have additional medical conditions that influence treatment.

3As dystonia research continues to progress, treatmentoptions will expand.

3The purpose of treatment is primarily to lessen the physical symptoms of dystonia: the muscle spasms, involuntary movements, and abnormal postures. Treatment may also involve treating the secondary effects of dystonia: pain, changes in daily living, impacton mood and emotional health, and overall wellness.

16 SUMMER 2014

The Phelps Family

Mother of four Melissa Phelps is on a mission to improveawareness of dystonia in her northern Kentucky communityand help find a cure for daughters Olivia and Madison.“There are days where my children can’t just be childrenand move freely to play and do things children shouldbe able to do.” she explains. “They are trapped insidetheir own bodies.”

The girls were born with tyrosine hydroxylase deficiency,a rare metabolic disease that causes generalized dystonia.They experience painful muscle spasms in their limbs,hands, feet, neck, face, and tongue as well as complicationsaffecting their respiratory and gastrointestinal systems.Olivia, now age four, was diagnosed at 16 months after

several frustrating misdiagnoses. Olivia paved the wayfor the diagnosis of one-year-old Madison, which camewhen Madison was just five months old.

Once Melissa and husband Roger had a solid diagnosisfor the girls, they quickly discovered there were no supportgroups or local resources to provide information or encouragement. Melissa contacted the DMRF andbegan learning everything she could about tyrosine hydroxylase deficiency and dystonia.

After attending Dystonia Advocacy Day in 2013, Melissawas inspired to host the first-ever Dystance4DystoniaCincinnati Zoo Walk. The event attracted over 250 peopleand raised $10,000. “It was amazing,” she recalls. Theevent provided families with a day at the zoo in supportof dystonia research and DMRF programs. The zoo location is ideal for a family-friendly event: centrally located, wheelchair-accessible, and built to accommodatecrowds and children. Melissa is preparing for the 2nd

Annual Dystance4Dystonia Cincinnati Zoo Walk on September 13, 2014. “My goal this year is to raise$20,000 and have at least 500 in attendance. We can do this!” To help create a buzz around the walk and get a head start on raising funds, Melissa created dystoniaawareness t-shirts for sale in support of the event. Participants who register in advance are eligible for door prize drawings throughout the summer.

“Until we have a cure,” she says, “You will find meworking towards the goal of a pain free life and the freedom to move for my daughters.”

Impact Events Families Use Fun and Imagination to Support the DMRF

The DMRF has countless examples every year of individuals and families who make great strides in

awareness and fund critical medical research by hosting local events customized to their communities.

Whether it’s hosting a walk, planning a sports competition, or partnering with a neighborhood business,

local events bring members of the dystonia community together and provide the public with the opportunity

to learn about dystonia in a social, memorable way. Every event is inspired by a family’s desire to

channel the devastation of the diagnosis into a positive force to create a better future for the entire

dystonia community.

Melissa and Roger Phelps are creating awareness and raisingfunds for research through the annual Dystance4DystoniaCincinnati Zoo Walk. Photo by John Hoffman.

DYSTONIA DIALOGUE 17

Melissa was recognized as a DMRF Douglas KramerYoung Advocate in 2013 for outstanding service in advocacy. Read about this year's Advocates on page 11.

The Metherell FamilyJames and CassieMetherell wantedto host an eventin support of the DMRF thatwould stand out from theseemingly endlessnumber of charityevents competingfor attention intheir upstate NewYork community.They created acornhole tourna-ment in whichteams compete in a bean baggame popular at tailgate partiesand back yard

barbecues. The first ever Toss4Dystonia fundraiser tookplace in 2013 in nearby Rochester, attracting familiesand supporters eager for a unique but familiar activity in support of a meaningful cause. Participants spent theday playing cornhole, winning raffle items, and enjoyingconcessions. The event raised over $11,000. It was sucha success that the Metherell’s are planning the 2nd AnnualToss4Dystonia Cornhole Tournament scheduled forSeptember 20, 2014 at Frontier Field. James says, “We received amazing support for our inaugural event,and we’re hoping for an even better turnout this year.”

James and Cassie support the DMRF in honor of theirson Caleb, whose dystonia symptoms started at five witha speech impediment. There was little change for almosttwo years, until Caleb suddenly began to bend over

uncontrollably in an awkward and painful posture. “It was agonizing for him to stand, or even sit, unless he could rest his body in a fetal position,” says James.“He can no longer speak clearly. He struggles to keep up with classmates, not due to intellect, but because hisbody won’t allow him to speak up in class, sing in chorus, write notes, or otherwise participate fully.”

Caleb was not diagnosed until he was nearly nine yearsold—and after multiple misdiagnoses. A positive test for the DYT1 gene mutation known to cause dystoniafinally confirmed what was wrong.

Caleb is now 11 years old, and though his symptoms arepartially subdued through medication, James explains,“My son is growing up in a body that increasingly refuses to do what he tells it to do.”

Because the DYT1 gene was discovered through researchfunded by DMRF, James and Cassie wanted to make adifference—as well provide a model and outlet for Calebto become an advocate on his own behalf. “We need acure. It’s also a sad reality that there is often a long timebetween symptom onset and proper diagnosis for mostdystonia patients,” James explains. “This can only beimproved through greater awareness among the public as well as people in the medical field.”

The Power of Local Events Around the country, DMRF supporters are organizingcreative events in support of dystonia research toward a cure. These events attract individuals and families directly impacted by dystonia, and invite the public to help make a difference while having fun.

DMRF staff members are more than happy to discussfundraising ideas and the type of event that may be best suited for your community. If you are interested inhosting a fundraising event in support of the DMRF,please contact us at 312-755-0198 or dystonia@dystonia-foundation.org

James and Cassie Metherell, and sonsCaleb and Joshua, organized the veryfirst bean bag tournament to supportthe DMRF.

18 SUMMER 2014

Fatta Nahab, MD, Associate Professor of Neurosciencesat University of California San Diego spoke at a springmeeting of the Dystonia Support & Advocacy Group ofSan Diego County led by Martha Murphy.

Ability magazine featured DMRF Board Member andAwareness Ambassador Billy McLaughlin in a storyabout his journey with focal hand dystonia and benefitconcert in support of dystonia research earlier in the year.

Lindsay Nemeth hosted a St. Patrick's Day Raffle tobenefit the DMRF in honor of her brother NicholasRyan Nemeth who struggles on a daily basis with generalized dystonia. The event raised over $1,300.

Denise Gibson ran the BloomsdayRun in Spokane, Washington onMay 4 and raised over $1,200 in support of the DMRF. Denisedeveloped dystonia following aserious biking accident and went years without an accuratediagnosis. She leads the Dyscoveries Dystonia SupportGroup in Spokane, Washington.

Sarah Ernstberger shared her experience with generalized dystonia with hundreds of students at theAlpha Omicron Pi - Kappa Kappa Dodgeball Tournamentat her alma mater Ball State University in Indiana.

In an annual Mother’s Day tradition, the Verville family and music teacher Patricia Bergeron held their9th Hands for Movement Freedom piano recital in Vermont to benefit the DMRF. Alexandre Verville,whose dystonia diagnosis inspired this annual concert, also performed.

For years, Len and Janice Nachbar, leaders of the Central Jersey Dystonia Support and Action Group,have educated local community leaders about dystoniaand the need for increased awareness and research.The Freehold Township Committee once again recog-nized June as Dystonia Awareness Month in FreeholdTownship thanks to their dedicated efforts. The couplealso appeared on New Jersey radio station WOBM AM1160 on the program "Preferred Company” to educatelisteners about dystonia. Len and Janice advocate fordystonia in honor of their daughter Joanna Manusovwho is affected.

Leader of the Facebook Cervical Dystonia Support ForumDenise Gaskell shared her story in a short film by Allergan commemorating the 25th anniversary of Botox®(onabotulinumtoxinA), the first botulinum neurotoxinFDA-approved for therapeutic use in the United States.

Mary Sherlinksi developed "Fundraising on the Go"kits containing dystonia awareness wristbands, ribbons,and pins and raised over $700.

In April a team of runners from MooreheadCommunications joined together to raise awarenessof dystonia and $1,400 fordystonia research in honorof friend and personaltrainer Pam Hall.

PEOPLE ON THE MOVEThe DMRF is deeply grateful for our grassroots volunteers who work year round to promote dystoniaawareness and fundraise for medical research. Every effort and every volunteer makes a difference!

DYSTONIA D IALOGUE 19

Pat and BillWyatt visited theoffice of Alabama Governor RobertBentley where he signed aproclamation in support of dystonia aware-

ness. Pat leads the Dystonia Support Group of Alabama.

In May, Pat Brogan and his supporters hosted the 1st Annual Dystonia Meets Multiple Sclerosis GolfTournament in Drums, Pennsylvania, raising over$19,500 on behalf of the DMRF and the local chapter of the Multiple Sclerosis Association.

Tracy Blowers is on the run—for dystonia! Despite cervicaldystonia, she is competing in aseries of runs/5Ks throughout2014 in support of the DMRF.

Massimo La Rosa, principal trombone of the ClevelandOrchestra, raised over $4,000 on behalf of the DMRFin a special recital with Elizabeth DeMio on piano inShaker Heights, Ohio.

In June, SusanStrawgate Code,Howard Code, andtheir son EthanCode-—plus familyand friends—hosted their 10th Garage Salefundraiser for the DMRF. This was their most successfulevent to date, raising more than $1,500! To help raiseawareness, flyers were placed on tables. The Codesare pictured with Grace Coward and Ruth O’Connell.

Rosemary Young and family hosted the 1st Dystance4Dystonia Detroit Zoo Walk on June 22, 2014. The event attracted 500 peopleand raised over $20,000 in support of dystonia researchand DMRF programs.

Please keep the DMRF informed of your awareness andfundraising activities so that we may acknowledge andcelebrate your hard work. Contact us at dialogue@dystonia-foundation.org or 312-755-0198.

John BeakeyGuy BenedictJames BillingsCharlie BlauJulian BrannonAlice CleaverJames Gerald ConlonMarisa DeGrayArnold DiamondRobert DinsmoreCraig DobleW. Pat Dulaney

Gloria Tyson DwyerTillie FendoIla FosterSydney GelberThomas Stephen GrubbEdward HarrisMarjorie HassmanRebecca Ondyna HoglandWanda HurstRoy JohnsonAra Elizabeth JohnstonMary Kolls

Barbara LadymanBetty Lacy McClureElizabeth McGavockJulice McWilliamsMichael MolinaroRegina M. NelsonHarry OffenbergC.C. Patel, MDVirginia PetersonPaul PetrucciRose PomponioMarion Raffensperger

Helen RauschLouise ScipioneGenevieve ShineAnita SimonBruce SlepianVera StickleyBetty StrawgateTuvia VelvelRobert VirsonApril Wolf

The DMRF wishes to acknowledge the generous gifts received this year in memory of the following:

Clinical trials are research investigations in which volunteers help evaluate new drugs, medical devices, or other applications in strictly scientifically controlledsettings. In the United States, clinical trials are requiredbefore a drug can receive approval from the Food andDrug Administration (FDA) and is made available tothe public. Trials may be designed to assess the safetyand efficacy of an experimental therapy, to assesswhether a new treatment is better than the standard approach, or to compare the efficacy of two therapies.

Patients play an invaluable role in the process. The very nature of clinical trials dictates that these kinds ofinvestigations would not be possible without volunteers.Over the years, Martha has taken part in multiple clinicalstudies. She helped bring a new brand of botulinumneurotoxin to market, played a role in investigating anew brain stimulation technique, and is enrolled in theDystonia Coalition National History of Primary DystoniaStudy. “It’s a very rewarding and worthwhile experience,”she explains. “We’re not only helping ourselves but, potentially, many others as well. Volunteers are alwaysneeded and we play a very key role in getting productsFDA-approved. I strongly encourage other people tolearn more about clinical trials in your area.” Martha has lived with cervical dystonia for over 38 years. Shefounded and leads the Dystonia Support & AdvocacyGroup of San Diego County and serves as the DMRF’sBrain Bank Liaison.

Why participate in a clinical trial?There are a number of benefits for people who choose to take part in research studies:• The opportunity to play an active role in your healthcare. Being personally involved in your treatment is empowering.

• Participants have access to medications and/or treatments that are not otherwise available outside of the study and may not be FDA-approved for several years.

• Study participants receive their study medicationsand/or treatments free of charge and may be reimbursedfor travel expenses or paid for their time.

• Clinical trials often take place at leading healthcare facilities in the country, and the investigators are veryexperienced medical specialists.

• Participants not only benefit themselves, but they alsohelp others by contributing to medical research and,hopefully, making it possible for the studied treatmentor medication to become FDA-approved.

• Participants have the freedom to leave a research studyat any time, for any reason.

Are there risks associated with participating in aclinical trial? Some treatments or devices being tested may have unpleasant side effects which can range from serious to life-threatening. In all studies, known risks should befully explained by the principal investigator conductingthe study prior to participation. A potential study participant should also discuss these issues with theirregular movement disorder specialist.

Participate in Researchby Volunteering for a

20 SUMMER 2014

Martha Murphy received treatment for cervical dystonia,

free of charge, from an expert movement disorder specialist offering

a cutting edge therapy not yet available to the public—all the while helping to bring new treatments

to market for other patients. How did she manage this? She volunteered for a clinical trial.

DYSTONIA D IALOGUE 21

How are volunteers protected in a clinical trial? Will everything about the study be explained to me before I agree to participate? Studies of drugs, devices, or other biological products regulatedby the FDA must be reviewed, approved and monitored by an Institutional Review Board (IRB). An IRB is comprised of physicians, researchers, and other experts who are given therole to ensure that the study is ethical and that the rights andwell-being of the study participants are protected at all times.

Complete information about a study must be given before aperson agrees to participate in a clinical trial. This is known as informed consent. This information includes:• Why the study is being done• What the researchers hope to accomplish• The duration of the study• What will happen during the study• Other available treatments that the participant may want to consider

• Possible risks or complications of participating in the study• Potential benefits of participating in the study• That the participant can leave the study at any time• Who should be contacted with questions about the study

How do I participate?If you are interested in learning more about participating in a clinical trial, first consider asking your movement disorderneurologist if he/she is aware of any studies that are recruitingvolunteers. Additionally, below are two websites that allow youto search for clinical trials by key words and specific disorders:

National Institutes of Health Clinical Trialswww.nih.gov/health/clinicaltrials/

Center Watch Clinical Trialswww.centerwatch.com

Questions to Ask When Considering Volunteering for a Clinical TrialBefore consenting to take part in a clinical trial or study, feel free to ask the investigators any questions you have.For example:

• How will it be determined what treatment I receive during the study(drug or placebo?) Will I know whether I received the treatment or placebo?

• What kinds of tests or exams will I have to take while in the study? What is involved in those tests and how much time will they take?

• How often will I have to go to the clinic/hospital during my study participation?

• Will I be hospitalized? If so, how oftenand for how long?

• Are there costs associated with partici-pating in the study? If so, who will payfor them?

• What happens at the completion of the study? Will there be any follow-up?

• If I benefit from the medication/treatment,can I continue to receive it after the studyis completed?

• Who will oversee my medical care while I am participating in the study? Do I continue to see my regular doctor?

• What are my options if I am injured inthe study?

• Can I receive information about the outcome of the study?

The DMRF is bringing the successes and challenges of

clinical trials for dystonia to a national platform. Executive

Director Janet Hieshetter was invited to present at the

Society for Clinical Trials annual meeting and invited by

the National Institute of Neurological Disorders & Stroke

to join an INSPIRE Workshop panel to discuss how a

rare disease community prepares for clinical trials.

CANDID KIDS Young People with Dystonia

Dystonia is a complex disorder, but a new fact sheetuses the red light/green light game as an analogyto explain dystonia in a way children can understand:Your brain is the traffic light that tells your muscleswhen and how to move. Dystonia makes it hard forthe brain to give muscles the right signals at theright time.

Download the fact sheet at: http://www.dystonia-foundation.org/what-is-dystonia/printed-publications

Red Light, Green Light!DMRF Offers New Fact Sheet for Kids

Critter Cuffs Support DMRFCreated by DMRF member Avis Brodess, CritterCuffs are wearable stuffed toys that adhere to aspecial Velcro cuff. There are four interchangeablecritter characters: Paco the Penguin, Kiah theKoala, Moka the Meerkat, and Flame the Dragon.A portion of sales will support dystonia researchand DMRF programs. Critters are $14.95 plus$7.95 for shipping and handling. For more infor-mation, go to: www.crittercuffsfordystonia.com.

22

DYSTONIA D IALOGUE 23

How did your symptomsbegin and how were you diagnosed? I’ve got oromandibulardystonia, and that startedwhen I was 16. I was having TMJ issues [temporomandibularjoint disorder] and out of the blue started gettingpainful spasms in my jaw and this consistenttremor that looked like Iwas shivering. My ortho-

dontist had no clue what was going on and he sent me tosee a couple other jaw specialists and they were clueless.Finally one of these specialists did an online search ofmy symptoms, and found the Dystonia Medical ResearchFoundation website. The description of oromandibulardystonia he found there seemed to match my symptoms.I saw a movement disorder neurologist and he diagnosedme. Started botulinum neurotoxin injections, but theyweren’t much help. So my oromandibular dystonia treatment has mostly been medications and stress management.

I also have functional dystonia in my shoulder. Thatcropped up toward the end of my first year of teaching,in 2009. My shoulder started jerking, and having alreadybeen through the oromandibular dystonia diagnosis, myneurologist was one of my first calls. After some tests heexplained it was functional dystonia while the dystoniain my jaw was an “organic” dystonia. As soon as the schoolyear was over I spent a week at a major movement disordercenter doing physical therapy and occupational therapy.I got some pretty big improvements in my shoulderfrom that. When I first went down there my shouldertremor was pretty constant, but now I have to be pretty

tired or pretty stressed out for the shoulder to start jerking.I have exercises for my shoulder I do every day.

How does dystonia impact your daily life?On a pretty good day, you probably wouldn’t notice muchis wrong with me at a glance. In my jaw, the tremors areconstant but I’ve learned ways to position it where theamplitude stays pretty small, so it’s usually not noticeableto other people. On a really bad day, my shoulder andmy jaw are twitching and painful usually before the endof first period at school, and I’ll be like that all day. I’lldo some posturing and my head gets pulled to the sideand I get pulled into kind of a hunched over positionand visibly twitching quite a bit.

What helps you cope?Especially with the functional dystonia, stress is a hugetrigger for my symptoms. I work very hard to keep mystress well managed. And I’m lucky my husband is verywilling to accommodate my needs as necessary. One reallyimportant thing for me has been running. For some reasonit’s effectively an off-switch for the dystonia in my shoulder.So at the end of a work day, I go for a run and pretty muchno matter how bad my symptoms are, within a couple ofminutes of running you wouldn’t know anything was wrongwith my shoulder any more. And then I get a little whilebefore I start twitching again. Exercise for me has been areally good stress relief. Coping with needing more sleephas been one of the big challenges for me too.

Why is it important to you to support the DMRF?I’ve received a lot of benefit from the DMRF over theyears and would like to support their efforts to continueoffering the kinds of resources I’ve benefited from as wellas research toward better treatments and a cure. There is acertain amount of self-interest in supporting the research.I do hope I’ll benefit from dystonia research either inimproved treatments or maybe even a cure someday. Evenwhen research doesn’t necessarily lead directly to newtreatments, it still helps teach us something new abouthow the brain works and how the body works and younever know where that will end up leading.

Find more information about oromandibular dystonia andfunctional dystonia at www.dystonia-foundation.org.

PERSONAL PROFILEMeet Marta Stoeckel-Rogers Marta Stoeckel-Rogers is diagnosed with oromandibular and shoulder dystonias. In late2013 she ran the Twin Cities Marathon—hervery first marathon—in support of the DMRF.

Marta is a high school scienceteacher in Minnesota.

Dystonia DialogueDystonia Medical Research FoundationOne East Wacker Drive • Suite 2810Chicago, Illinois 60601-1905PHONE 312 755 0198 • 800 377 DYST (3978)WEB www.dystonia-foundation.org

Upcoming Events

August 11, 2014Minnesota Dystonia Golf ClassicCottage Grove, MN

September 12–14, 2014 Ross Wolf is Racing4Dystonia Monterey, CA

September 13, 2014 2nd Annual Cincinnati Dystance4Dystonia Zoo WalkCincinnati, OH

September 20, 20142nd Annual Toss4Dystonia Cornhole TournamentRochester, NY

September 21, 2014Dystance4Dystonia Pittsburgh Zoo WalkPittsburgh, PA

September 27, 2014Dystance4Dystonia Cleveland Zoo WalkCleveland, OH

November 16, 2014Mid-Atlantic Dystonia SymposiumSilver Spring, MD

See www.dystonia-foundation.org for additional events as dates are confirmed.