8Musician’s Legacy to Benefit Dystonia Community

18Major Breakthroughs in Dystonia Biochemistry

20Interview with Dr. Mark Hallett of NINDS

N EW S L E T T E R O F T H E D Y S T O N I A M E D I C A L R E S E A R C H F O U N D AT I O N

W i n t e r 2 0 1 6 | Vo l u m e 3 9 • N o . 3

Dystonia Dialogue4 0 Y E A R S O F S E R V I C E 1 9 7 6 – 2 0 1 6

Special Insert on

DMRF Science Program

See page 11

4 0 Y E A R S O F S E R V I C E 1 9 7 6 – 2 0 1 62

DMRF supporters across the country are increasing dystonia awareness and funding medical research by hosting local events.Many of this year’s Dystonia Zoo Walks and events were held during Dystonia Awareness Month in September. See page 16for more in “People on the Move” and more images from theDystonia Moves Me campaign on page 23.

Together Toward a CureThousands Attend DMRF

Events to Raise Awareness

& Research Funds

D y s t o n i a D i a l o g u e | W i n t e r 2 0 1 6 3

On June 11, 250+ people gathered for 1st Twin Cities DystoniaZoo Walk organized by Elizabeth Schultz, Billy McLaughlin, andmembers of the Minnesota Dystonia Support Group. Speakersincluded Jerrold Vitek, MD, PhD from University of Minnesota.

The Baron family of Rhode Island organized the 2nd ProvidenceDystonia Zoo Walk at Roger Williams Park on June 18. Hundredsattended to support dystonia research and bring visibility tothe disorder.

Rosemary Young and supporters turned out for the 3rd DetroitDystonia Zoo Walk on July 17. The event attracted 500 attendeesand was extensively covered by Fox2-TV, resulting in a tremen-dous boost for dystonia awareness in the greater Detroit area.

The 1st Portland Dystonia Zoo Walk was organized by DeeLinde and members of the Portland, Oregon & SouthwestWashington Dystonia Support Group. The event took placeJuly 23, and world famous Voodoo Doughnuts donated treats.

DMRF President Art Kessler and Cynthia Comella, MD ofRush University Medical Center welcomed participants at the1st Chicago Dystonia Zoo Walk on August 14. The Zoo Walkwas held in conjunction with the Dystonia Family Symposium.

June Tritley, leader of the St Louis Metro Dystonia SupportGroup, organized the 2nd St Louis Dystonia Zoo Walk on August 27. Digital Partners Incorporated (dpi), surprised 6-year-old Andrew Fisher with a iPad as part of their Movefor Dystonia campaign. Past DMRF Clinical Fellow Scott Norris, MD of Washington University spoke at the event.

On September 10, 500+ people gathered for the 4th CincinnatiDystonia Zoo Walk organized by Melissa Phelps. DonaldGilbert, MD of Cincinnati Children’s Hospital spoke at theevent, and the Radisson Cincinnati Riverfront showed theirsupport by lighting the hotel building in blue. The Zoo Walkwas followed by “Go Blue for Dystonia Day” in Gallatin, Kentucky and surrounding counties on September 23.

On September 17, Jessica Lawler held the1st Stomp Out Dystonia 5K in Beloit, Wisconsin to raisedystonia awareness and research funds. The event was featured in the Beloit News, and 100 people attended.

Just weeks after deep brain stimulation surgery, PamelaSloate held the 2nd NYC (Bronx) Zoo Walk on September 18,attracting 400 people. Past DMRF Clinical Fellow HariniSarva, MD of New York-Presbyterian/Weill Cornell MedicalCenter spoke at the event.

The Flanagan Family, who held the original Dystonia Zoo Walk,continued their support of the DMRF with the 5th ClevelandDystonia Zoo Walk on September 24. Many thanks to the organizing committee: Karen Flanagan, Jane Ann Flanagan,and Gale Flanagan.  

The 3rd Dystonia Pittsburgh Zoo Walk was a great successon September 25 thanks to Western Pennsylvania DystoniaSupport Group leaders MaryRae Nee, Ed Cwalinski, and theirsupporters. Nearly 500 people participated.

Jim Metherell organized the 4th Toss4Dystonia CornholeTournament in Buffalo on September 24 to raise awarenessand research funds. NBC 2 WGR-TV provided coverage, andthe international Peace Bridge between the USA and Canadawas lit up in blue in support of the event and DystoniaAwareness Month.

The 2nd Putnam Dystance4Dystonia Walk organized by theGardner Family took place October 1 in Connecticut.

Sheila Williams, leader of the Cedar Rapids Dystonia SupportGroup, organized the Cedar Rapids Dogs4Dystonia Walk onOctober 15. The event was featured in multiple local newsoutlets.

Many thanks to Kohl's Cares Associates in Action for providingZoo Walk volunteers from seven stores and to Target for providing volunteers from four stores.

The DMRF thanks Zoo Walk National Sponsors Allergan and Merz for their generous support.

4 0 Y E A R S O F S E R V I C E 1 9 7 6 – 2 0 1 64

On the Cover:September was Dystonia Awareness Month. DMRF supporters hosted events, took part in the DystoniaMoves Me campaign, and used their creativity to bringvisibility to dystonia. Read more on pages 2 and 23.

Partial support of the Dystonia Dialogue is provided by

an educational grant from Allergan, Inc.

The Dystonia Dialogue is the magazine of

the Dystonia Medical Research Foundation

(DMRF). It is published three times a year to

provide information to individuals affected by

dystonia, family members, and supporters of

the DMRF.

The Dystonia Medical Research Foundation

(DMRF) is a non-profit, 501c(3) organization

founded in 1976. The mission is to advance

research for more effective treatments and

a cure, to promote awareness and education,

and to support the well being of affected

individuals and families.

Dystonia Medical Research Foundation

One East Wacker Drive • Suite 1730

Chicago, Illinois 60601-1980

Phone: 312 755 0198 • 800 377 3978

Email: dystonia@dystonia-foundation.org

Web: www.dystonia-foundation.org

The Dystonia Dialogue reports on develop-

ments in dystonia research and treatments

but does not endorse or recommend any of

the therapies discussed. Individuals are urged

to consult a physician with questions and

concerns about their symptoms and care.

StaffJanet L. HieshetterExecutive Director

Debbie DurrerDirector of Development

Veronica DiazInformation Coordinator

Jessica FeeleyEditor and Special Projects

Jennifer McNabolaDirector of Finance

Martha MurphyBrain Bank Liaison

Emma PintoDevelopment Associate

Jody RooseveltScience and Technology Manager

Jan Teller, MA, PhDChief Scientific Officer

Printed in the USA.© Dystonia Medical Research Foundation

Inside this Issue

8 Jim’s Gifts Legacy of Beloved Musician

10 Addex to Conduct Clinical Study in Cervical DystoniaImportant Study Examines Oral Medication

18 Targeting TorsinAMajor Advancements Made in Dystonia Biochemistry

20 Where Do Dystonic Movements Come From? NINDS Lab Continues to Make Landmark Discoveries in Dystonia

22 Personal ProfileMeet Amanda Guilfoyle

What is Dystonia?Dystonia is a neurological movement disorder. Excessive signaling from the braincauses muscles in the body and limbs to contract and twist involuntarily. Dystoniamay affect a single part of the body or multiple muscle groups. There are manycauses and types of dystonia, and dozens of diseases and conditions include dystonia as a symptom. For more information, visit dystonia-foundation.org.

D y s t o n i a D i a l o g u e | W i n t e r 2 0 1 6 5

Foundation Update

Janet L. Hieshetter Executive Director

Art KesslerPresident

Art Kessler Janet L. Hieshetter President Executive Director

Dear Friends,

The DMRF’s 40th year is drawing to a close. The anniversary represents 40 years of service to thecommunity. Thanks to the support of members like you, 2016 has been another very productive year.The momentum in the field continues to build. There is so much research activity, new dystonia studiesare published on a daily basis. Compared to even 20 years ago, this is inspiring! We’re pleased to beable to share several important advancements in research that have unfolded in the past months, including a very exciting clinical trial for a new oral medication for cervical dystonia (See page 10.).

Words like ‘research’ and ‘science’ can seem abstract. Many of us imagine laboratories stocked withtest tubes and microscopes, and it can be difficult to understand how that relates to daily life withdystonia. Research and science represent powerful investments for the dystonia community. We fundresearch because science is our path to a better life for everyone who is impacted by this life-changingdisorder. Every curious investigator who is working to uncover a new discovery about dystonia isbringing us closer to a possible new treatment breakthrough. Even studies that demonstrate the failure of a new treatment approach are not failures in progress. Negative results point the way towardanswers as much as positive results do. Every dollar invested brings us closer to a cure, a truly priceless achievement. See the special insert in this newsletter for an overview of DMRF sciencestrategies and initiatives.

The DMRF partners with researchers who are passionate about their work. In addition to dedicatingtheir careers to dystonia, they attend and support Dystonia Zoo Walks and other DMRF events in theircommunities. They understand you are counting on them and welcome opportunities to get to know you.

Your support of the DMRF is a privilege we do not take lightly. Every donation we receive is a transaction of expectation; we understand you are counting on us. We are proud of the work we doand share in every accomplishment with our members. Progress in dystonia research is happeningbecause of our work together.

The Foundation has been made stronger by being receptive to new ideas, feedback, and collaboration.If you have questions about the DMRF mission or programs, or would like to get more involved, pleasedo not hesitate to contact us. If you need information about dystonia or connection to local and online support groups, we are here for you.

Thank you for supporting the DMRF. We are here for you until there is no longer a need.

We wish you and yours a happy and healthy holiday season.

Sincerely,

4 0 Y E A R S O F S E R V I C E 1 9 7 6 – 2 0 1 66

The symposium offered educational presentations on the latest information on dystonia and discussion sessions aboutdaily living and family dynamics. There were sessions foradults, children, and teens—and lots of time to make newfriends and connect with others in the dystonia community.Sponsors include Allergan Foundation, Merz Neurosciences,Ipsen, Ultragenyx Pharmaceutical, AWAS, and St Jude Medical.

The Symposium began the evening of Friday August 12 with a Welcome Dinner hosted by DMRF President Art Kessler. As part of the greetings, each symposium attendee was presented with an Olympic style medal for being a championof dystonia awareness.

“The weekend was wonderful,” says Kathy Rentfrow, Chair of the Family Symposium Planning Committee andmoderator of the children’s track. “It’s so valuable for peopleto come together to learn about dystonia from experts andfrom each other. The Symposium program was designed to beinteractive and help attendees get answers to their questions.My daughter Melissa has nothing but happy memories fromprevious symposiums and learned a lot this year.”

Sue Baron is the founder and leader of the Rhode Island Dystonia Support Group. She and her husband Cliff and son Bryan, who has dystonia, are regular Dystonia FamilySymposium attendees: “We were very excited to join ourfriends and the DMRF in Chicago this year for the FamilySymposium. The highlight of Friday night’s dinner was watching everyone receive their medals. To me as a supportgroup leader and a parent of a young man affected by dystonia, it showed how much this organization really cares about those affected with dystonia.”

“Words cannot describe what the atmosphere was like at thesymposium. The Zoo Walk was a lot of fun. What a fabulousweekend!” says Amy Yurchision, who is diagnosed with generalized dystonia and traveled from Pennsylvania to attend. “I always leave DMRF events happy, upbeat, andhaving made new friends as well as reconnecting with oldfriends. I know that I am not alone in this battle.”

DMRF President Art Kessler and movement disorder specialistCynthia Comella, MD of Rush University Medical Center andfounder of the Dystonia Study Group welcomed participantsat Lincoln Park Zoo on Sunday August 14. Zoo Walkers spentthe morning enjoying the zoo and promoting awarenessamong patrons.

Quality Family Time200 Gather for Dystonia Family Symposium & Zoo Walk

Chicago may have lost its bid for the summer Olympics to Rio, but the DMRF hosted a gathering

of champions in the Windy City this August. Individuals and families from across the country

came together for the Dystonia Family Symposium and first-ever Chicago Dystonia Zoo Walk,

August 12–14, 2016.

Symposium registration included full admission to the 1st Chicago Dystonia Zoo Walk.

D y s t o n i a D i a l o g u e | W i n t e r 2 0 1 6 7

DMRF VP of Support, Karen Ross, PhD (left) leda break out session on emotional health andLeadership Chair Paula Schneider moderatedthe teen track.

Family Symposium attendees were presented with medals at the Welcome Dinner.

Expert medical speakers included Tanya Simuni, MD; Parag Patil, MD, PhD; and Danny Bega, MD.

(L to R) Symposium Planning Committee Members Karen Price, Ed Holtvluwer, Kathy Rentfrow(Chair), Kali Peroni, and guest speaker Dee Linde.

(L to R) DMRF President Art Kessler with parents, VP ofAwareness Barbara Kessler and VP of Development and Past President Dennis Kessler.

And so it was only fitting that Jim’s memorial service was aparty of 100+ people with wine, live music, and a beautifuleulogy by Caroline’s daughter, author Jenny Davidson.Jim’s loved ones spoke of his loyalty to family and friends,thoughtfulness of others, and warm humorous spirit.

Jim graduated from the New School of Music in Philadelphia,where he studied clarinet and saxophone. He was a memberof the Delaware Symphony for over 20 years, and performedwith the Pennsylvania Ballet Orchestra, Peter Nero and thePhilly Pops, Network for New Music, Relache Ensemble, andthe Playhouse at the Hotel Dupont in Wilmington, Delaware.As a gifted freelance musician, Jim performed in variouspick-up projects over a long and successful career. He wasthe kind of musician—and man—others flocked to. He developed focal dystonia in 1995 while balancing some ofhis most prestigious playing commitments. The middle fingerof his right hand refused to land squarely on the clarinet key,insisting on either over or under shooting.

“The loss of his career was huge,” recalls Caroline. Jim wasforced to stop performing in 2001. “He said, all my life I thoughtof myself as a clarinet player, and I’m not that anymore. Theside effect is that he became a fantastically admired teacher.Teaching came to be not just a change in livelihood but a realcalling.” Jim taught for many years at Settlement Music Schooland was a member of the faculty at Widener University.  

At the time Jim developed focal dystonia, the disorder was unknown in most medical circles and a closely guardedsecret among professional musicians. “People tended to bevery private about it, until a number of big names began talk-ing publicly—Gary Graffman, Leon Fleisher, among others.”explains Caroline. “None of the doctors he saw had anythingto offer. It was such a demoralizing experience. When Jim

was finally diagnosed, it was devastating but a huge relief.He thought, I am not crazy. There was a reasonable explanation for what was happening.”

Jim was a longtime friend of Glen Estrin, a gifted and internationally esteemed French horn player who developeddevastating symptoms of embouchure dystonia that affectednot only his horn playing but also eating and speaking. Glenand movement disorder specialist Steven Frucht, MD createdMusicians With Dystonia in 2000 under the organizationalumbrella of the DMRF. Jim reached out to his buddy, eager tosupport fellow musicians who were diagnosed and contributewhat he could to research. Glen invited Jim to participate inmusician’s dystonia meetings and volunteer for an importantlimb immobilization study led by Dr. Frucht. Jim also appearedalong with Glen and Dr. Frucht in the documentary ChangingKeys, an independent film partially funded by the DMRFabout world class guitarist Billy McLaughlin.

“Jim was so pleased to find the DMRF, and Musicians WithDystonia especially,” says Caroline. “He was eager to support

8 4 0 Y E A R S O F S E R V I C E 1 9 7 6 – 2 0 1 6

Jim’s GiftsBeloved Musician Leaves Legacy of Artistry, Kindness, Dystonia Research

“Jim didn’t have to be the star of the show, but he was the backbone. He loved to be a provider for

people—especially the provider of wine at parties!” remembers Caroline Davidson, whose husband

James Kilik passed away from cancer in 2015.

Jim Kilik left the DMRF $1.8M in his will to benefit others with dystonia.

D y s t o n i a D i a l o g u e | W i n t e r 2 0 1 6 9

anything the DMRF was invested in, to enlarge our under-standing of dystonia—all dystonias.”

In a final act of generosity so characteristic of his nature,Jim included the DMRF in his will. Upon his death, theDMRF learned he had left the Foundation a staggering$1.8M in support of the mission.

“What would Jim want to become of his gift?” Caroline repeated the question before responding. “He’s not foolish enough to expect a cure from it, but I think he’dlike to see work toward more treatment, knowledge, support, and spreading the word. It shows how committedhe was to the DMRF. He knew the DMRF is a dedicatedand professional organization that is going to use themoney wisely.”

After focal dystonia struck, Jim only played the clarinet to teach. During the last few years of his life, he began to play for pleasure again, mostly in a trio that included a trombone player who developed embouchure dystoniaand took up the clarinet. “It took a long time for playing to be appealing again, but I am glad he had that,” saysCaroline. “He came to have a clear understanding that he had had a solid performing career, and that there areothers who are cut down before they get to that point. He was able to look back and be pleased with his accom-plishments—there were some big moments. He was ableto look back with a sense of pleasure and not just loss.That was how he made peace with it.” Jim also found greatcomfort riding his bike on the many quiet paths aroundPhiladelphia, along the river and canals.

The DMRF is working with Caroline to establish a grant inJim’s honor dedicated to research into musician’s dystonia.“My hope,” says Caroline, “is that other people who aresuffering with dystonia find the same support that Jim feltfrom the DMRF, Musicians With Dystonia, and his friendGlen. Support and networking are so important.”

Musicians With Dystonia is dedicated to serving the special needs of musicians affected by task-specific focaldystonia, particularly hand and embouchure dystonias.For more information, visit dystonia-foundation.org/MWD or email musicians@dystonia-foundation.org.

Jim Kilik left the world a better place. A beautiful man whose dedicated and generous spirit enhanced thelives of all he met, Jim’s cheerful, warm countenance wasalways admired and cherished. Jim applied his determina-tion and talent to every task he undertook, whether it wasplaying the clarinet at an incredibly high artistic level ormentoring his beloved students at the Settlement MusicSchool of Philadelphia. Very humble about his great successin the difficult music profession, he would attribute it toluck instead of hard work and innate ability!

Jim’s friendship, humor, and caring attitude towards his colleagues were truly renowned, and when Jim was on thestage you knew from the first rehearsal that you were in fora treat. This remarkable approach was present, too, whenfocal dystonia ravaged and ended his performing career.We assisted Jim every way we could with his diagnosis,support, and potential therapies, but he was always aheadof us with offers of how he might help the Foundation!

Dr. Frucht and I, along with the DMRF and entire dystoniaworld, were astonished to hear of the magnitude of Jim’sgenerosity with his bequest that is by far the largest singledonation in the history of the Foundation. Jim’s giving spirittowards all people with dystonia will live forever, along withour bountiful, beautiful memories of him. Goodbye and thankyou, dear friend.

~ Glen Estrin, Co-Founder & President, Musicians With Dystonia

I first met Jim as a patient at Columbia University. He was obviously a deeply intelligent, curious, and warmperson. He was fascinated by his condition in a way thatfew patients are; he wanted to understand how as a clar-inetist he had been afflicted with this mysterious disorder,musician’s dystonia. Jim enrolled in a clinical trial that Iwas running using limb immobilization to try to reset themotor program in afflicted musicians. While he did not derive benefit (and subsequently we realized that almostno patients did!), he was not upset—rather, he viewed it as one step in the path towards progress. Jim saw me on a couple of other occasions, and he would check in fromtime to time to see how the field had evolved. It was thusboth a surprise, but also not completely unexpected, to see how Jim was thinking in his final bequest about otherpatients with musician’s dystonia, and how he could helpadvance their treatment and care. He was a true gentleman,and he will be sorely missed.

~ Steven Frucht, MD, Co-Founder & Medical Advisory

Committee Chair, Musicians With Dystonia

“

“”

”

4 0 Y E A R S O F S E R V I C E 1 9 7 6 – 2 0 1 610

Years of collaboration between the DMRF and Addex Therapeutics have resulted in the announcement of a clinicaltrial to test a potential dystonia therapy. Addex will conduct a Phase IIa Proof of Concept Study of dipraglurant in focal cervical dystonia. Addex expects to initiate the trial in late 2016.

The study was developed with support from the DMRF and in collaboration withinvestigators from the Dystonia Coalition, an international network of experts devoted to advancing research in dystonia. H. A. Jinnah, MD, PhD, Director of theDystonia Coalition and Professor of Neurology at Emory University, will serve asthe lead investigator.

“We are extremely pleased that Addex decided to conduct this trial,” said JanTeller, PhD, Chief Scientific Officer of the DMRF. “This places Addex among a few pioneering pharmaceutical companies who attempt to develop new oraltreatments for dystonia patients. Our Foundation will continue to support these efforts in any way possible.”

Cervical dystonia, affecting the neck and shoulder muscles, is the most prevalentform of dystonia, occurring in approximately 50,000 patients in the United States.Treating cervical dystonia can be challenging, and available therapies, such as oral medications and botulinum neurotoxin injections, do not provide adequate orconsistent benefit for all patients. Addex’s study will include a sample of cervicaldystonia patients for whom botulinum neurotoxin injections do not provide optimalrelief. The single center study will be double-blinded and placebo-controlled.

“We are excited to be moving dipraglurant for focal cervical dystonia forward in theclinic,” said Tim Dyer, CEO of Addex. “We are pleased to have Professor Jinnah, aworld-renowned neurology expert, serving as lead investigator for our study, and aregrateful for the continued support from the Dystonia Medical Research Foundation.”

Dipraglurant, a novel small molecule inhibitor of the metabotropic glutamate receptor 5, has demonstrated positive dystonia-reducing effects in multiple animal models of dystonia. The drug has also has shown promise in the treatmentof levodopa-induced dyskinesia and dystonia in Parkinson’s disease.

The DMRF will share additional details about this study as updates are available.

Addex Therapeutics to ConductClinical Study of Dipraglurant inCervical Dystonia Important Study Examines Oral Medication Therapy

US Congress Recognizes DystoniaAwareness MonthBoth chambers of the United StatesCongress officially recognized DystoniaAwareness Month this September,sending a strong signal of support to constituents impacted by the disorder.

US Senators Johnny Isakson (R - GA)and Jeff Merkley (D - OR) co-led Senate Resolution 601 recognizingSeptember as National DystoniaAwareness Month, at the urging of DMRF support leaders DebbieWilkinson of Georgia and Dee Lindeof Oregon. In the House of Repre-sentatives, Congresswoman JanSchakowsky (IL - 9th district) issued a statement into the CongressionalRecord describing dystonia and theneed for greater awareness and medical research. She made specificmention of the DMRF and her friend-ship with the Farber family, longtimeDMRF supporters.

These developments complementyear-round efforts of the DystoniaAdvocacy Network (DAN) to educatemembers of Congress about dystoniaand the urgent need for federal research dollars. As part of the DAN’s outreach to legislators, allnewly elected Senators and Repre-sentatives will receive a packet of information about dystonia in January 2017 at the commencementof the 115th US Congress. DystoniaAdvocacy Day is scheduled for March 21–22, 2017.

“We are doing everything possible to accelerate progress indystonia through supporting research and clinical translation.The rate-limiting factor is research funding, which is now in

short supply relative to all the opportunities available.”Mahlon R. DeLong, MD, Scientific Director, Dystonia Medical Research Foundation

Professor of Neurology, Emory University School of Medicine

Moving Toward

“Without the DMRF, dystonia research would have been virtually non-existent.”Stanley Fahn, MD, Lifetime Honorary Director,

Dystonia Medical Research Foundation

H. Houston Merritt Professor of Neurology & Director

Emeritus of the Center for Parkinson’s Disease and

Other Movement Disorders, Columbia University

FOR DYSTONIA

Strategies & Initiatives from the Dystonia Medical

Research Foundation’s Science Program

T H E C U R E

These are the questions the DMRF Board of Directors ask themselves because they have taken on the responsibility to create a future without dystonia. This is the DMRF mission.

The leaders of the DMRF believe the best service they can provide is to work every single day toward improved therapies and a cure whileproviding a safety net of information and support for patients and their

families. The DMRF is a leader in the field of dystonia, committed to making a positive difference in people’s lives.

Over 40+ years, the DMRF’s science activities have grown from a simple grants program to a multi-layered,sophisticated science portfolio. This playbook provides an overview of the strategies and initiatives in action right now that are bringing us closer to new therapies and a cure.

IF IT WERE UP TO YOU TO FIND A CURE FOR DYSTONIA,

WHAT WOULD YOU DO?WHAT COULD YOU

ACCOMPLISH TODAY?

WORK WITH THE BEST PEOPLE.The Medical & Scientific Advisory Council is made up of dystonia clinicians andscientists who are among themost knowledgeable in theworld and whose work isshaping neurology, neuro-science, neurosurgery, andmultidisciplinary fields.

Scientific Director Mahlon DeLong, MD is among those rare researchers whose workhas literally evolved from lab bench to bedside within his career. His pioneering discoveriescontributed greatly to the application

of deep brain stimulation to dystonia, which has transformed countless lives.

Provide researchers with the funding they need to work.Scientists from all over the world are eligible to apply forgrant and fellowship funding from the DMRF to supporttheir research on dystonia. The DMRF provides modestgrants ($50-$100K, on average) that allow investigatorsto do the preliminary work necessary to be eligible forlarger grants from agencies like the National Institutes of Health and Department of Defense.

The DMRF has invested over

$35M in science.

Connect the research community. Scientific workshops and meetingsstimulate the exchange of ideas,lead to collaborations, and attractnew experts to work in dystonia.Among the most influential dystoniameetings, the DMRF has organizedfive International Dystonia Symposiasince 1975.

HIRE A FULL-TIME SCIENTIST.

The DMRF’s Chief Scientific

Officer, Jan Teller, MA, PhD, works

closely with Scientific Director

Mahlon DeLong, MD and the

Medical & Scientific Advisory

Council to manage all aspects of

the science program. While being

in constant communication with

dystonia researchers around the

world, he also monitors all areas

of neurology for opportunities that

may hold promise for dystonia.

DMRF scientific workshops are often followedby a call for research applications based onthe discussion and ideas generated.

“Many of the researchers who are doing dystonia work would not be doing so if it

weren’t for the DMRF. Not only have we funded their research, but we’ve funded

conferences they attend to connect with others in the field. We’ve urged Congress

to allow dystonia to be researched through federal agencies, so even a lot of the

research we’re not funding directly is being funded as a result of our work. We’ve

been at the center of so many initiatives within the dystonia research community.”

Art KesslerPresident, Dystonia Medical Research Foundation

Early Onset Generalized Dystonia

What does legislative advocacy have to do with research? Congress decides how much thefederal government should spend on medical research, and dystonia advocates work yearround to make sure funding is available for dystonia investigators.

Take calculated risks on exciting ideas.

In many cases, the DMRF is prepared to fund research that is notbeing supported throughother means. The DMRFis often able to supportriskier, envelope-pushinginvestigations that federalagencies are less inclinedto fund.

DMRF provided a grant to Xandra Breakefield, PhD, who in collaboration with others, discovered the DYT1 dystoniagene—a pivotal discovery that boostedprogress in the field. At the time, she wasunable to get federal funding for findingthe gene.

PREPARE FOR CLINICAL TRIALS. When new dystonia treatments needto be tested, the field must be organ-ized to respond quickly. This meansdesigning smart studies, identifyingclinical institutions ready to partici-pate, and recruiting hundreds, if notthousands, of human volunteers. TheDMRF has worked with the DystoniaStudy Group to establish a networkof physicians and patients that canbe mobilized for clinical trials, andthe Global Dystonia Registry is aconfidential index of 4,800+ dystonia patients.

Tackle the tough problems. The DMRF collaborates with investigators to work on specific projects. Research contracts have funded new cell and animal models, pursued potential drug targets, studied specific genes and proteins, and led to better understanding of brain pathways associated with dystonia.

Uncover targets for new drugs.The DMRF is partnering with biotechnology and pharmaceutical companies to identify new drug targets, which is a first step toward new medications.Through a multi-year collaboration with BioFocus DPI, the DMRF has identified300+ potential dystonia drug targets that are being explored.

Get patients and families involved. The DMRF regularly announces opportunities to volunteer in dystonia research. The DMRF also empowers members to make their voices heard to Congress and advocate on the need to protect federal research fundingand treatment access.

PROVIDE RESEARCHERS RESOURCES TO HELP THEM.

The DMRF has funded the development of cell and animal models to be

shared with dystonia investigators at multiple institutions to pursue their

research. The Brain Bank Collective oversees a private collection of

donated brain tissue available exclusively to dystonia researchers.

Protect and increase federal research funding.As a founding member of the Dystonia AdvocacyNetwork, the DMRF actively supports the federalfunding of dystonia research at the National Institutes of Health (about $15M per year) andmore recently through the Department of Defense ($6M since 2010).

TRAIN NEUROLOGISTS IN MOVEMENT DISORDERS.The DMRF has invested $2M in training second-year

fellow physicians in the diagnosis and treatment of move-ment disorders with special competence in dystonia. Nineteenelite movement disorder experts have completed the ClinicalFellowship Training Program to date.

The movement disorder specialists who have completed DMRF clinical fellowships have gone on to positions at prestigious medical institutions and begun practicing in communities previously without dystonia experts.

Recruit young investigators. The DMRF helps young investigatorsestablish and pursue careers in dystonia. The DMRF creates numer-ous opportunities--through researchfunding and scientific workshops—for young investigators to interactwith established dystonia expertswho become mentors and sourcesof ongoing inspiration.

Collaborate with other dystoniaorganizations. The DMRF cannot cure dystoniaalone. The patient community winswhen like-minded organizations worktogether in a worldwide cooperativeeffort on projects like the GlobalDystonia Registry and Dystonia Brain Collective.

Never forget people are countingon the DMRF. Every member of the DMRF Board of Directors is personally affected bydystonia and understands firsthandhow devastating the disorder can be.Until there is a cure, the DMRF willbe a source of information and support for everyone who is impacted by dystonia.

Publish resources for doctors. Proceedings from the InternationalDystonia Symposia are published as textbooks, and the DMRF’s ChiefScientific Officer has co-authored articles in medical journals. Theseresources provide researchers andclinicians with the latest informationon dystonia and treatment.

“Patient groups have a clear

role in jumpstarting research,

particularly in young investi-

gators who are having a diffi-

cult time otherwise getting

themselves on the map. We’ve

observed over and over again

how DMRF has gotten different

research groups started, and

then they have gone on to the

National Institutes of Health

to get greater funding.”

Mark Hallett, MD, Chief, Human

Motor Control Section, National

Institute of Neurological Disorders

& Stroke

GET DRUG COMPANIES INTERESTED IN DYSTONIA.The DMRF has formed alliances with pharmaceutical partners intended to speed-up the development of newtherapies. Because negotiations with pharma involve confidential information and proprietary interests, theDMRF is often unable to publicize these efforts.

Addex Therapeutics announced they will conduct a clinical study of dipraglurant in cervical dystonia.The study design was developed with support from the DMRF.

Step up and do the work no one else can. The DMRF serves as an administrative

center for several dystonia community

projects including the Global Dystonia

Registry, Dystonia Advocacy Network,

and Dystonia Brain Collective. The DMRF

also lends administrative support to the

Dystonia Coalition. People power and

office support are critical to keeping

these important programs alive

and functioning smoothly.

D y s t o n i a D i a l o g u e | W i n t e r 2 0 1 6 15

Allergan and the DMRF are proud to continuea long-standing partnership in support of

dystonia patients by conducting a surveyto evaluate awareness of cervical dystonia, its symptoms, and treatmentoptions in order to encourage education and proper diagnosis of

this often-disabling condition. Detailsabout the survey will be available at

dystonia-foundation.org.

“Our partnership with Allergan on this survey will support patientswith cervical dystonia and their families by shedding light on the lackof awareness of the condition,” said Art Kessler, DMRF President. “Itis imperative that patients have accurate information about cervicaldystonia in order to seek the appropriate care and treatment options.Equally as critical is continuing to work with a healthcare provider.”

“Allergan is committed to supporting patients with cervical dystoniaand educating the public about this condition in order to encourageproper diagnosis and treatment,” said Mitchell Brin, MD, Senior Vice President Global Drug Development and Chief Scientific Officer,Botox®. “We value our continued partnership with the DMRF toraise awareness of cervical dystonia, potential treatment options,and the importance of talking to your doctor.”

DMRF’s partnership with Allergan has also included raising awareness through Dystonia Zoo Walks in cities across the UnitedStates. Read more about these and other events on page 2.

Allergan is a global pharmaceutical company that manufacturesBotox®, a prescription medicine that is injected into muscles andused to treat the abnormal head position and neck pain caused by cervical dystonia.

New Survey to DetermineAwareness and Impact ofCervical Dystonia on Patients and Families

How Can I Participate in Dystonia Research?

You can support dystonia research

discoveries in more ways than one.

Consider these opportunities to have

an impact:

Ask Your Doctor

Your movement disorder specialist may

be participating in a clinical trial that

needs volunteers.

Search Online for NIH Studies

Search for dystonia clinical studies

supported by the National Institutes of

Health at nih.gov/health/clinicaltrials/.

Register as a Brain Donor

Individuals with all types of dystonia are

eligible. For information visit dystonia-

foundation.org/brain.

Join the Global Dystonia Registry

Patient registries help researchers

better understand dystonia by collecting

information directly from patient volunteers.

Join the Global Dystonia Registry at

globaldystoniaregistry.org/

Donate

Financial contributions to the DMRF

support cutting-edge research by the

world’s foremost thought leaders and

up-and-coming experts. Use the envelope

enclosed in this newsletter to make

a gift or donate online at dystonia-

foundation.org/donate.

4 0 Y E A R S O F S E R V I C E 1 9 7 6 – 2 0 1 616

Mary Flanagan of Royal View Elemen-tary School in North Royalton, OH wasinspired by cousin Karen Flanagan todedicate a project to dystonia. Karen is diagnosed with rapid-onset dystoniaparkinsonism and organized the originalDystonia Zoo Walk in 2011.

Douglas Kramer Young AdvocateAward recipient Hannah Thompsonand mother Jean Thompson partneredwith Flight Restaurant and Wine Bar in Glenview, IL to organize a fundraiserto support the DMRF. Over 120 peopleattended to show their support. Theevent was featured in the ChicagoTribune. The Thompson family also had a team at the Chicago DystoniaZoo Walk in August.

The Chicago Cubs hosted DystoniaDay at Wrigley Field on September 1,kicking off Dystonia Awareness Month.

Carrie Siu Butt completed the ChicagoRock ‘n’ Roll Half Marathon for dystoniaawareness and to raise funds for research. Since deep brain stimulationdramatically reduced her severe dystonia,Carrie has been dedicated to runningon behalf of those with dystonia who can’t.

DMRF Vice President of Support Dr. Karen K. Ross was published onPulse.com. Her blog entry describedher experience in the hospital waitingroom while her son Michael was havingdeep brain stimulation surgery to treatgeneralized dystonia.

Sarah Spoto held an online campaignsharing her experience with cervicaldystonia and raising funds to benefitthe DMRF, raising over $600 in justtwo weeks.

Leader of the Mid-Michigan DystoniaSupport Group Gina R. Saucedo organ-ized Dystonia Awareness Night with the Lansing Lugnuts on September 2.Nine-year old Keegan Breedveldthrew out the first pitch!

Dee Linde, leader of the Portland &Southwest WA Dystonia Support Group,and Pat Croll, leader of the Bend, ORDystonia Support Group, joined forcesto organize a dystonia educationalmeeting in Springfield, OR. The guestpresenter was movement disorder specialist Sara Batya, MD.

DMRF Board Member Billy McLaughlinand Regional Coordinator/SupportGroup Leader Martha Murphy appearedwith Drew Schlosberg of the San DiegoUnion-Tribune on his internet radioshow in September.

People on the Move The DMRF is extremely grateful for the grassroots volunteers across the country working to improve

dystonia awareness and raise funds for medical research. Every volunteer makes a difference!

D y s t o n i a D i a l o g u e | W i n t e r 2 0 1 6 17

Hundreds of prize baskets were raffledat the 11th Annual Chicago Basket Bashin October to raise funds in support ofthe DMRF. Beth Farber, her husbandSteve Laser, and parents Joel and Harriett Farber have organized the annual event since 2005 in honor andmemory of Shari Farber Tritt who developed dystonia as a child.

Cindy Sullivan is auctioning autographedThe Walking Dead memorabilia in sup-port of the DMRF. She is pictured withJason Douglas, just one of the many castmembers to sign auction items. For info,visit facebook.com/twdappearances.Cindy supports the DMRF in honor ofher mother, May Shatto.

Erin Marshall created the #TwistLikeDys campaign, issuing a challenge on socialmedia for people to twist their bodies into a position resembling a dystonia postureand hold it for one minute to gain some appreciation for living with chronic dystoniasymptoms. Those who wished to support the campaign without participating wereinvited to make a gift to the DMRF.

Chelsi Christman part-nered with local leaders in Muncie, Indiana andDelaware County to promote dystonia aware-ness. Mayor Dennis Tylerauthorized a large DystoniaMoves Me banner in frontof City Hall. The office ofMayor Tyler collaboratedwith US Congressman

Luke Messer, Principal of Heritage Hall Christian School Dave Stein, and City Councilman Doug Marshall for a “Go Blue for Dystonia Balloon Launch” at the end of September. Chelsi’s story was featured in the Star Press.

A number of volunteersthroughout the country obtained dystonia awarenessproclamations from their Governors or local govern-ments: Debbie Bunch (MO);Mike Delise (MI); NaamahHarley (KS); Val and ErnieInman (FL); Lori Faust Jordanand Linda Tobin Davis (NY);Brad and Shanna Schmitt (MN);

Martha Murphy (CA); Robbie Nabors, Betty Harlan, and Sharlene Hester (AL); Janice and Len Nachbar (NJ), Bob and Ginny Spencer (AZ), Ian Thomson (WI), and Amanda Yarbro (AR).

Ginny Bryan andfriends ran MVPHealth Care RochesterMarathon Relay whilesupporters cheeredfrom the sidelines.

For more dystonia awareness moments, be sure to check out the Dystonia Moves Me page online:dystonia-foundation.org/dystonia-moves-me.

4 0 Y E A R S O F S E R V I C E 1 9 7 6 – 2 0 1 618

TorsinA to the RescueA team of researchers led by DMRF Stanley Fahn Award recipient William Dauer, MD at University of Michigan andDMRF research fellowship recipient Lauren Tanabe, PhD,now of Wayne State University, has made remarkable stridesin clarifying the biochemical origins of DYT1 dystonia. One ofthe most characteristic features of DYT1 dystonia is thatsymptoms begin during a specific window of time, typicallywhen patients are 9 to 12 years old. Understanding why thedeveloping nervous system is vulnerable to dystonia at thistime in childhood is critical to clarifying the pathophysiologyand developing new treatments.

DYT1 patients develop dystonia when the body cannot properly produce TorsinA. It remains unknown how and why this abnormal protein leads to dystonia symptoms, butDrs. Dauer and Tanabe are putting important pieces to thepuzzle. In a series of studies in animal and cell models, theyhave found that a loss of TorsinA function leads to abnormalformations in brain cells and brain cell death. These damag-ing effects occur only during the window of time when symptoms develop. The investigators’ latest experimentshave shown that the impaired brain cells can be rescued byhealthy TorsinA and a related protein, TorsinB. These proteinsare critical to the survival of brain cells and can actually savebrain cells from the damaging effects of abnormal TorsinA.

This work gives an unprecedented view into the sequence of events between impaired TorsinA function and the onset

of dystonia symptoms, creating opportunities to strategizenew therapies.

Surprise! TorsinA Regulates Lipid Metabolism Meanwhile, across the globe, a former trainee of Dr. Dauerand member of the DMRF’s Medical & Scientific AdvisoryCouncil, is making additional landmark discoveries about the role of TorsinA in cells. The function of this protein is yetanother mystery that may soon be solved. Rose Goodchild,PhD at University of Leuven in Belgium has used fruit flies toshow that TorsinA regulates lipid metabolism. Lipids are fatmolecules and have important roles in the structure andfunction of living cells, including brain cells.

This unexpected discovery provides new insight into thephysiological roles of TorsinA and opens up new opportunitiesfor therapeutic strategies to treat or prevent dystonia symptoms.

Role in Calcium Physiology Longtime dystonia investigator and DMRF Stanley FahnAward recipient Pedro Gonzalez-Alegre, MD, PhD, continuesto publish discoveries on TorsinA. In his latest paper, he re-veals that TorsinA has a role in calcium physiology—an ob-servation not made before. Healthy TorsinA helps protectcells from the effects of stress, but mutant TorsinA causes aninadequate stress response that interferes with protein me-tabolism and affects calcium turnover. These observationswere made in rodent brains and confirmed in human brainthanks to the availability of donated tissue samples.

Targeting TorsinA Researchers Make Major Advancements in Understanding Dystonia Biochemistry

In the summer issue of the Dystonia Dialogue, the article entitled “The Private Lives of Proteins”

described the efforts the DMRF is making to dispel some of the mystery surrounding TorsinA,

a protein known to cause dystonia when it becomes abnormal due to genetic mutation. TorsinA is

infamous for its role in causing DYT1 early onset dystonia but is also suspected to play a role in

additional types of dystonia. The past several months have produced an explosion of groundbreaking

new data on TorsinA—including some surprises.

D y s t o n i a D i a l o g u e | W i n t e r 2 0 1 6 19

TorsinA was discovered in 1997

when DMRF- funded investigators

identified the DYT1 gene responsible

for isolated, early onset dystonia.

The DYT1 gene is responsible for the

body’s ability to produce TorsinA.

TorsinA belongs to a group of

proteins known as the AAA+ ATPase

family which has many roles in the

cell. They are able to break down

a molecule called ATP and use the

energy released to change the

structure of other molecules.

TorsinA is found primarily in brain

cells (neurons) and interacts with

several proteins—among them, two

proteins called LULL1 and LAP1—

that activate TorsinA. This makes

TorsinA different from other members

of the AAA+ ATPase family which

can activate themselves without

help from additional proteins. When

TorsinA becomes abnormal due to

a mutation in the DYT1 gene, it

cannot interact with LULL1 or LAP1

and therefore cannot activate and

do its job in the cell.

Side-by-side comparison of normal TorsinA (left) and mutated TorsinA(right). Zoomed insets show the atomic details of the interactions between TorsinA/mutated TorsinA and a protein called LULL1.Image used with permission from eLife, v.6 2016. Copyright © 2016, Demircioglu et al.

Additional dystonia proteins play a role in cell stress responses and in regulatingcalcium. Dr. Gonzalez-Alegre’s work provides a point of intersection for researchinvestigations exploring the molecular origins of various forms of dystonia,inspiring new questions to explore.

TorsinA Takes ShapeAt Massachusetts Institute of Technology, researchers led by DMRF grant recipient and Medical & Scientific Advisory Council member Thomas Schwartz,PhD have used sophisticated crystallography technology to reveal the shapeand structure of the TorsinA protein.

As a protein, TorsinA is so small it cannot be visualized with the most powerfulmicroscope. Instead, it must be transformed into a crystal and beamed with X-rays that reveal its three-dimensional structure. Visualizing the structure provides a complete understanding of TorsinA function and the ability to de-velop drugs that influence its function. Dr. Schwartz has successfully describedthe atomic structure of both healthy and abnormal TorsinA, providing a novelperspective from which to ask new questions and design new experiments.

Next StepsDecades of supporting basic research are producing a flurry of new discover-ies that have real-world implications for the development of new treatmentstrategies that target dystonia at the molecular level. Researchers have pub-lished fascinating new data on the function and structure of TorsinA, adding tothe explosion of new information resulting from genetic investigations. TheDMRF will continue to keep members informed of ongoing developments.

The DMRF is proud to partner with the charitable foundation Cure Dystonia Nowto fund projects focused on TorsinA in 2016. For information on these and allDMRF-funded research projects, visit dystonia-foundation.org/research.

4 0 Y E A R S O F S E R V I C E 1 9 7 6 – 2 0 1 620

Where Do Dystonic Movements Come From?NINDS Human Motor Control Section Continues to Make LandmarkDiscoveries in Dystonia

The National Institutes of Health (NIH) is the federal government’s medical research agency and the largest bio-medical research institution in the world.One of its research sections is devotedto the study of how people move andhow medical disorders affect movement.Mark Hallett, MD has been Chief of theHuman Motor Control Section at theNational Institute of Neurological Dis-orders & Stroke (NINDS) since 1984.Under his leadership, a majority of thegroup’s research has been devoted todystonia, with an emphasis on adultonset focal dystonias. Dr. Hallett alsotrains young neurologists in the diag-nosis and treatment of movement dis-orders. The most common adult onsetfocal dystonias include blepharospasm,cervical dystonia, limb dystonias, oro-mandibular/cranial dystonias, and spas-modic dysphonia/laryngeal dystonia.

Dr. Hallett’s work in movement disordersbegan before ‘movement disorders’ wasa medical discipline: “I got interested inthe way the brain works and specificallyin the way it makes different kinds ofmovement. But as a neurologist, I amnot only interested in the ordinary waythat the brain makes movements buthow the process falls apart in various disease states.”

Dr. Hallett is a pioneer in applying neurophysiological techniques todystonia. He and his team pursue fundamental questions about the disorder that have yet to be resolved:What happens in the brain to causedystonia? Where do dystonic move-ments come from? His work involvesobserving what is going on in the brainto produce symptoms using techniquessuch as transcranial magnetic stimula-tion (TMS), electroencephalography(EEG), positron emission tomography(PET), functional magnetic resonanceimaging (fMRI), and other technologiesthat measure brain and muscle activity.

His earliest interest in dystonia focusedon musician’s dystonia and other task-specific dystonias affecting the hands.Over the years, his research expandedto all the adult onset focal dystonias.The Human Motor Control Section has produced landmark discoveries to advance our understanding of dystoniapathophysiology and has inspired newdirections for research.

Key Concepts: Inhibition & PlasticityThe systems of the human body revolvearound maintaining a balance of physicaland chemical processes. The brain is a spectacularly complex system thatdepends upon many functions happen-ing simultaneously and cooperatively.Certain functions of the brain must be activated while other areas are sup-pressed, and this must be orchestratedwith precision. “One of the importantthemes that we came to identify, and anumber of people in other laboratoriesdid around the same time,” explains Dr. Hallett, “is that there are abnormalitiesof central nervous system inhibition indystonia. The brain operates in a balanceof facilitation and inhibition. If there isa loss of inhibition then that would leadto too much motor activity. Too muchmotor activity seems to be exactlywhat we see in dystonia.” The problemlies in the brain’s ability to appropriatelyapply the brakes to functions that mustbe suppressed for normal movementto occur. This realization is highly relevant to zeroing in on the source of the flaw and strategizing new treatment approaches.

“We became interested in a highly specific type of loss of inhibition calledsurround inhibition. The way the brainseems to control fine selective move-ment is to inhibit the things you don’twant to move at the same time thatyou facilitate the things that you dowant to move. Again, it’s a balancing

Dr. Mark Hallett has dedicated the majority ofresearch in his NINDS lab to dystonia.

D y s t o n i a D i a l o g u e | W i n t e r 2 0 1 6 21

act. So if there is a loss of this type ofinhibition, when someone attempts tomove, they will move more musclesthan what they intend. That also is very characteristic of people who have dystonia—there’s this overflowphenomenon of excessive movement.”

The loss of inhibition in dystonia extendsbeyond the brain’s ability to producemovement. It also affects the sensorysystem—the ways in which the bodyreceives and delivers information tothe brain. “We found that there is a lossof inhibition in the sensory system. It’ssuch a subtle and mild abnormality thatit is not anything that patients generallynotice, but it’s there.” Dr. Hallett explainsthat multiple studies have shown thatdystonia patients have trouble distin-guishing visual and touch stimuli thatoccur in close time sequence or prox-imity on the body. This does not occuron a conscious level, but becomes evident with subtle sensory testingusing neurophysiological techniques.

Dr. Hallett continues: “The sense I have is that this loss of inhibition represents itself in multiple ways inboth pathophysiology and in clinicalsymptomology and becomes a verycentral issue in trying to understandhow dystonic manifestations comeabout. We’re learning more and moreevery year that goes by. That’s a majorpart of the work that we’re doing.”

An additional fundamental motorprocess that is abnormal in dystonia is plasticity, which is the brain’s abilityto adapt and change over time. In dystonia, the movement tasks that thebrain has learned—blinking, writing,walking, etc.—have been corrupted.Movements that were once second

nature become abnormal. “That is the abnormal plasticity that is presentin patients,” Dr. Hallett explains. “It isconceivable that the abnormality ofplasticity is also related to loss ofinhibition, since plasticity depends oninhibitory mechanisms to some extent.”

Abnormal brain plasticity is particularlyrelevant for patients who have task-specific dystonia. For example, dystoniain professional musicians occurs onlywhile playing an instrument—a taskthat involves frequent repetitive move-ments over a duration of rehearsal andperforming. Other repetitive hand tasks,such as excessive writing, can also triggerdystonia. Dr. Hallett explains, “That excessive repetitive activity seems totrigger the dystonia probably becauseof an abnormal plastic process.” Thisdiscovery suggests the possibility thatthe brain can re-learn how to performthese movement tasks without causingsymptoms. While ‘brain re-training’ hasbecome a popular buzz word ascribedto everything from various therapies(some more credible than others) to computer games that promise tomake players smarter, this is an area

in dystonia research that requires continued investigation before conclu-sions about treatment strategies can be made.

Patient-Focused Research Dr. Hallett and his team spend a greatdeal of time diagnosing and treatingpatients, and recommending patientsfor clinical studies. “We can’t under-stand the pathophysiology in patientsunless we study patients. We’ve beenvery grateful to the patients that haveparticipated in the research.”

Patient participation in programs thatprovide biological samples to researchersare also critical: “We need donated brainsin order to be able to identify exactlywhere the pathology is. We need bloodto do genetic studies and other kindsof patient samples—and we need a lotof it in order to make progress.”

Dystonia is a complex neurologicalproblem to which teams of outstandingscientists in laboratories across theglobe are dedicated to solving. Medicalresearch into dystonia is a priority ofthe Human Motor Control Section ofNINDS in part to clarify how the human nervous system tackles a taskas complex as moving the body—and this has implications across diversemedical disciplines. But ultimately, thepurpose of Dr. Hallett’s research is tohelp dystonia patients feel and functionbetter: “We have some good therapiessymptomatically with botulinum toxinand deep brain stimulation, but we’dlike to be able to treat dystonia at anetiological level—what is the causeand can we fix the cause.”

The Dystonia AdvocacyNetwork urges Congress to appropriate funds to

support dystonia researchthrough the National

Institute of NeurologicalDisorders & Stroke (NINDS)

and additional federal agencies.

4 0 Y E A R S O F S E R V I C E 1 9 7 6 – 2 0 1 622

Amanda Guilfoyle is a married mother of two, Hailey (5) and Cody (3).

She resides in New Hampshire and has organized fundraising events

in support of the DMRF.Amanda was a new mom when she underwent deep brain stimulation surgeryfor the first time.

How and when did your symptoms begin?It started when I was 12 years old and dislocated my shoulderduring cheerleading practice. After my sixth shoulder surgery,my left hand curled into a first and nobody could figure it out.I was 22 when I found a movement disorder neurologist whosaid this is dystonia. I started having symptoms in my leg,and my foot would curl in and get stuck, my neck would getstuck—mainly it was on the left side of my body.

What has been your experience with deep brainstimulation (DBS)?When my doctors first mentioned DBS, I was pregnant, so I had to hold off. I was living in Florida at the time with nofamily in the area. My husband was going to school so I wasflying back and forth to Massachusetts to see my neurologist.There wasn’t much they could do medically because I waspregnant. So I toughed it out. After my daughter was born Idecided I needed to do something because I couldn’t takecare of her and I couldn’t take care of myself. She was sevenmonths old when I had my first DBS surgery, so that was hard.It was a long process, and two months after I had the DBSsurgery it got infected so they eventually took all the hardwareout. I had it redone in 2011, and since then it’s been amazing.Stress makes my symptoms a little worse, but I can use myhands and it’s nothing compared to what it used to be. 

What was it like being a new mom and undergoing DBS?It was hard because my husband was still in school in Florida,and I was flying back north with my daughter. My husband wasso supportive even though he couldn’t be there physically.Thankfully my parents and sister and in-laws were availableto help with my daughter. I was in the hospital for a long timewhen I first got the infection, and my daughter didn’t under-

stand. She was just a baby. It was very emotional for me tonot be there with her every day. My family brought her to thehospital every day and seeing her smile and laugh, that gotme through it.

What is your life like today?My whole life my dream was to become a mother. After I was diagnosed and thought about DBS, it was heartbreakingbecause I didn’t think I’d ever be able to have kids the waythat I was. Now that I’m on the other side of it and I wentthrough with DBS, I have two kids, I’m married, I have a housethat I can take care of, I have a son who has 22q 11 deletionsyndrome and a feeding tube—it’s amazing that I can manageall these things. When I look back at myself a couple yearsago I would have never imagined being able to do all thesethings—even the little things like holding your baby’s handor doing your own hair and make-up and all the day-to-daytasks I couldn’t do before. I’m so thankful that I went throughwith the DBS.

You’ve lived with dystonia since age 12. What haveyou learned from it?The biggest thing is not to take things for granted. I alsolearned what it’s like to have a disability. I almost feel like all of this happened to prepare me to take care of my sonwith a disability. I know what it’s like to be in the hospital allthe time. I know it’s frustrating to not have an answer. It tookme 10 years before I knew I had dystonia. We had a diagnosisearly with my son, but now he’s having some new issues andnobody really knows why. The doctors say he’s complicated.My mom said the doctors used to say the same things aboutme: she’s complicated, she’s a mystery. Now I know exactlywhat my mom went through.

PERSONAL PROFILE

Amanda Guilfoyle

D y s t o n i a D i a l o g u e | W i n t e r 2 0 1 6 23

For highlights from the campaign, visit dystonia-foundation.org/dystonia-moves-me

Shop Dystonia Moves Me awareness merchandise at dystonia-foundation.org/shop

Hundreds of Dystonia Moves Me kits were distributed throughout

Dystonia Awareness Month to individuals and support groups who

brought visibility to dystonia in their local communities.

Dystonia DialogueDystonia Medical Research FoundationOne East Wacker Drive • Suite 1730Chicago, Illinois 60601-1980PHONE 312 755 0198 • 800 377 DYST (3978)WEB www.dystonia-foundation.org

Stay in Touch!Sign up for the DMRF's monthly e-newsletter dystonia-foundation.org/email

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