PACIFIC REGIONAL DYSTONIA PATIEN

Speakers

(in alphabetical order)

Shoshana Beran is a 19 year old Junior at Scripps College who is majoring in Psychology with a Jewish studies minor. She has had generalized dystonia for 12 years and began noticing symptoms around the age of 8 when she was in third grade. Her handwriting was affected and she began seeing tremor in her hands, so the testing began. It was not until almost two years later, at the beginning of 5th grade, that she was finally diagnosed with dystonia and the doctors located the DYT1 gene. Over the years, her symptoms progressively worsened. The tremor spread to her arms, shoulders, neck, and she had stiffness in my hips, back and ankles. The pain slowly became more and more unbearable. She tried many medications and her freshman year of high school she began receiving Botox injections in her neck. She was unable to write or type, and had trouble with every day tasks like cutting her food and tying her shoes. The summer before her senior year of high school she was offered, for the first time, the opportunity to have DBS surgery. At that point, she was having trouble walking long distances due to the pain. She jumped at the opportunity. She says that it was, by far, the best decision she has ever made! So, during the Spring semester (February and April 2001) she had the DBS surgery at UCSF Med Center with Dr. Starr and Dr. Marks. She was 17 at the time. Within the next 6 months she began seeing improvements and has been seeing them ever since. Later that year, in the Fall, she began her freshman year at Scripps College in Claremont, CA. She says that people she meets now would never guess that she has Dystonia! Shoshana is with us today to share her story and to answer any questions that we might have about her experience with the Deep Brain Stimulator surgery.

Mitchell Brin, M.D. received his M.D. degree from Columbia University College of Physicians & Surgeons. He completed an internship in medicine at the Mt. Sinai Medical Center, and his neurology & Fellowship training at the Neurological Institute at Columbia University, where he subsequently became an Asst. Prof., & Coordinator of the Dystonia Clinical Research Center. In 1994, Dr. Brin joined the staff at the Mt. Sinai Medical Center and subsequently received the Bachmann-Strauss Endowed Chair in Neurology and was promoted to Professor. Dr. Brin has published extensively on movement disorders, and has committed most of his professional life to understanding the genetics of dystonia, finding more effective treatments for dystonia and other movement disorders, and cures for neuro-degenerative disorders. As Director of the Movement Disorder Program at Sinai, he was responsible for the patient care and research operations of the Center, with strong interaction with genetic studies, pharmacology research, and research database management. He was Principal Investigator of many ongoing clinical studies, and served as the primary clinical interface between the therapeutic program and the basic science laboratories. He is the past-President of WE MOVE and has served on the Medical Advisory Board of the Bachmann-Strauss Foundation, Dystonia Medical Research Foundation, National Spasmodic Torticollis Association, and as a Director of the Bachmann-Strauss Dystonia-Parkinson Foundation and WE MOVE. He was one of the first investigators to examine the use of botulinum toxin for the treatment of medical disorders including blepharospasm, hemifacial spasm, torticollis (cervical dystonia), laryngeal dystonia, oromandibular dystonia, writer’s cramp, occupational cramps, spasticity due to many etiologies, migraine headache and cosmetic conditions. He designed and conducted double blind studies examining the use of botulinum toxin for numerous conditions. He founded the American Academy of Neurology Course on Botulinum Toxin, has organized numerous courses and symposia on botulinum toxin, and has published extensively on this subject. Dr. Brin became Allergan, Inc. the Vice-President of Development and Therapeutic Area Head, BOTOX®/Neurology in Jan. 2001. In this capacity, he oversees the Global Development program for therapeutic neurotoxins and neurology research. He continues to publish actively and maintains his Professorship at UC Irvine with an adjunct Professorship at the Mt. Sinai School of Medicine.

Deborah De Leon, M.S. received her B.A. in Arts & Sciences from Penn State and an M.S. in Human Genetics at Sarah Lawrence College. She was a researcher at Columbia University and then Beth Israel Med. Center. She coordinated genetic research studies with Stanley Fahn, Susan Bressman and Mitchell Brin, and also with Xandra Breakefield and Laurie Ozelius in the lab. She was on the team that discovered the DYT1 gene. She started the first genetic testing for DYT1. Deborah is board certified in genetic counseling, and has counseled many families with various forms of Dystonia and other neurogenetic disorders, as well.

Mahlon DeLong, M.D. Dr. DeLong is the William Timmie Professor and Chairman of the Department of Neurology at the Emory University School of Medicine. Dr. DeLong has played a major role in clarifying the functional organization of the basal ganglia and the role of these structures in the pathophysiology of movement disorders such as Parkinson's disease. He and his colleagues proposed the now widely accepted concept of functionally segregated basal ganglia-thalamocortical circuits, which has helped to clarify the diverse role of the basal ganglia in motor, cognitive and emotional functions. He carried out important studies in primate models of Parkinson’s and other movement disorders that provided fundamental insight into the underlying mechanisms of these disorders. His studies helped to renew interest in new surgical approaches to treatment of movement disorders. Dr. DeLong and his colleagues have carried out major clinical trials of pallidotomy and deep brain stimulation for Parkinson's Disease. Dr. DeLong received a Javitz Neuroscience Investigator Award from the NINDS for his research. In 1997 Dr. DeLong received the Alfred E. Springer Award by the APDA and was elected to membership in the Johns Hopkins Society of Scholars. He served on the Advisory Council of the NINDS from 1996-2000. He serves on the Editorial Board of several scientific journals and government and private foundation advisory panels. He is also the Scientific Director of the Dystonia Medical Research Foundation and is on the Scientific Advisory Board of the APDA. Health Americas has recognized Dr. DeLong as one of the Top Doctors in Neurology for the treatment of movement disorders.

Glen Estrin had to end an illustrious 23-year career as a professional musician when afflicted with focal Dystonia of the lips and jaws. He performed on French horn with everyone from Johnny Mathis to the Chicago Symphony Orchestra, and toured throughout the U.S. and the world with Frank Sinatra. He can be heard on Grammy-winning recordings with Mr. Sinatra, Tony Bennett and Patti Page. In 1999, he founded the Musicians with Dystonia program of the Dystonia Medical Research Foundation with his neurologist, Dr. Steven Frucht of New York's Columbia Presbyterian Hospital. Since then he has devoted his time and efforts to assisting the affected musical population and also all people with Dystonia.

Jennifer Friedman, M.D. is a Movement Disorder Specialist and has been the Director of the Dystonia Clinic at Massachusetts General in Boston since 1998. She completed her B.A. degree at Princeton University and her M.D. degree at Stanford. She did a fellowship in Movement Disorders at Boston University Medical Center as well as a fellowship in Clinical Neurogenetics/Dystonia at Massachusetts General Hospital. She serves as an instructor at Harvard Medical School. She is a member of the Dystonia Study Group as well as the Therapeutics Subgroup with the Dystonia Medical Research Foundation (DMRF). She is currently working on a grant entitled “Motor Learning in DYT1 Dystonia.” Dr. Friedman has just recently relocated to the San Diego area to continue her clinical practice and research.

Neal Hermanowicz, M.D. is the Medical Advisor for the Pacific Regional Dystonia Patient Symposium. He is Director of the Movement Disorders Program and Associate Professor and Vice-Chair of Clinical Affairs in the Dept. of Neurology at UC Irvine. Originally from central Illinois, Dr. Hermanowicz received his Bachelor of Science degree from the University of Illinois in Champaign-Urbana. After graduate studies at MIT and Penn State, Dr. Hermanowicz received the MD degree from Temple University School of Medicine in Philadelphia. He then returned to the Midwest for his internship in Internal Medicine and residency in Neurology at the University of Wisconsin. Dr. Hermanowicz then completed two years of fellowship training in Movement Disorders at the University of Michigan under the direction of Dr. Anne Young & the late Dr. Jack Penney. During this time he was also a visiting fellow in Movement Disorders at the National Hospital for Neurology and Neurosurgery in London, England. Prior to joining the faculty at UCI, Dr. Hermanowicz held clinical faculty appointments at the University of New Mexico and Northwestern University. His research interests include nonpharmacological treatments of Parkinson’s disease and new applications of botulinum toxin.

Mary Hudson-McKinney, DPT, NCS (Neurologic Clinical Specialist) is an Adjunct Assistant Professor of Clinical Physical Therapy at University of Southern California, Los Angeles and a Registered Physical Therapist. She is also a Physical Therapist and Neuro Clinical Specialist for outpatient private practice at England Physical Therapy in Garden Grove, CA. Mary did her undergraduate work at CSU, Northridge, and completed both her Master’s degree, and her Doctorate degree at University of Southern California, Los Angeles with all degrees being in the field of Biokinesiology and Physical Therapy. Mary also worked as a PT/NCS at USC PT Associates, USC University Hospital, and USC Movement Disorders and Parkinson’s Clinic in Los Angeles for a number of years. Mary has a special interest in Physical Therapy for the treatment of Dystonia, which includes utilizing postural control and alignment to help increase ease of movement and decrease pain.

Rosalie Lewis has been involved with the Dystonia Foundation since 1985 when the first of her three sons were diagnosed with generalized dystonia. She has served on the Board of Trustees and has been President since 1998, and has been a committed advocate of the Foundation's mission. Trained as a teacher and school administrator, Rosalie also serves on community boards in her home of Rochester, NY. Her efforts in advocacy of the dystonia community extend to Congress where she regularly testifies for increased funding of research at the National Institutes of Health (NIH). Her interest in the funding of research through collaboration with other dystonia associations has led to world wide recognition of the combined efforts.

Robert McAlister, Ph.D. assumed the post of the Dystonia Medical Research Foundation Executive Director in March 2002. He did his undergraduate and graduate studies at Rice University in Houston, Texas, and his doctorate was in the field of parasite physiology. After a 3-year tour of duty as a Captain in the U.S. Army at Walter Reed Army Institute of Research, he continued his studies on the immunology of malaria for the next 10 years, simultaneously earning tenure and a teaching award at Southern Methodist University in Dallas, Texas. He was then recruited to start the AIDS education and surveillance program in the Oregon Health Division, Portland, Oregon and simultaneously was appointed Clinical Associate Professor of Public Health and Preventive Medicine at the Oregon Health Sciences University. He remained in the public health field for 12 years and then moved to the non-profit arena. He served as Executive Director of the National Eczema Association from 1998-2002 prior to joining the Dystonia Medical Research Foundation.

Martha Murphy is the Leader of the San Diego Dystonia Support Group, a Regional Co-Coordinator for the Pacific and Northwest and also serves as the Pacific Patient Advocacy Director for the Dystonia Medical Research Foundation. She has had Cervical Dystonia for 27 years but was not correctly diagnosed for almost 12 years. Martha is active in a host of Foundation activities including convention representation and symposium organization. Along with her husband and son, Martha appears on the MYOBLOC promotional materials. She is a volunteer at her local hospital and has a B.A. in Sociology with Journalism minor. She is very interested in patient advocacy issues and networking individuals.

Giselle Petzinger, M.D. is a Movement Disorder Specialist who completed her fellowship training at Columbia University with Stanley Fahn. She received her M.D. degree at USC and did her residency at Yale. She was at the Parkinson’s Institute for 4 years prior to moving to the University of Southern California where she has been for 3 years. She sees children with movement disorders and works in collaboration with the pediatric neurologists at Children's Hospital, Los Angeles and University of Southern California School of Medicine. She has an interest in animal models of Movement Disorders and a particular interest in understanding brain repair of the basal ganglia (brain structure important in movement disorders) after injury and factors that influence this repair.

Lesilee Rose, Ph.D. is an Associate Professor in the Section of Molecular and Cellular Biology at UC Davis. She received her Bachelor’s degree in Biology at the College of William & Mary and earned her Doctorate degree in Molecular Biology at Princeton University. She did her post-doctoral research at Cornell University. Dr. Rose is a Dystonia Medical Research Foundation grant recipient and is working on a research study entitled "The OOC-5 Protein, a C. elegans Model for Studying Torsin Protein Function." Dr. Rose’s work may lead to a greater understanding of the function of torsinA, the gene product known to be associated with the DYT1 gene (early-onset Dystonia). She is using the small roundworm, Caenorhabdiitis elegans, as a model system. In this system, the TorsinA homolog OOC-5 is required for the correct spatial localization of proteins at the membrane during early development. Localization of proteins to specific membrane regions is also critical for the function of neurons, the cells defective in Early Onset Dystonia. The model organism, C. elegans, is ideally suited to genetic and molecular research. Current research being funded by the Dystonia Foundation is aimed at identifying other genes that function in common with OOC-5. This work should help elucidate the intracellular function of torsin proteins in general, as well as identifying new genes whose human homologs could be examined for roles in Dystonia diseases.

Karen Ross, Ph.D. has been a psychologist and family therapist for more than 20 years, as well as a long-time Dystonia Medical Research Foundation (DMRF) Board member. She also recently became Vice President of Support for DMRF. She is the author of the book, Holding the Hope: A Parent's Guide to Living with Dystonia. Karen has an adult son who has early-onset Dystonia. She also recently developed a new relaxation audio program for Dystonia patients & caregivers entitled, Calming the Body, Calming the Mind.

David Song, M.D., Ph.D. is currently an Assistant Adjunct Professor, Department of Neurosciences at UCSD. Dr. Song is a Board Certified Neurologist and a Movement Disorder Specialist who completed his Fellowship training at Strong Memorial Hospital, University of Rochester Medical Center in Rochester, New York. The Dystonia clinic at the University of Rochester is one of the largest in the United States, caring for over 300 patients on a regular basis. His training included the evaluation and treatment of Dystonia patients, including the administration of botulinum toxin injections. He obtained his undergraduate degree in Biology, Genetics & Development at Cornell University in New York. He received his M.D., M.P.H., and Ph.D. degrees at Tulane University in New Orleans. He is a member of the Society for Neuroscience and the American Academy of Neurology. He is involved in clinical trials for Parkinson’s Disease and Huntington’s Disease and has written or contributed to publications in the field of Neurosciences. His current research interests are in the role of synaptic proteins, in particular alpha-synuclein, in the development of movement disorders and neurodegeneration.

David Swope, M.D. is an Associate Professor of Neurology and the Clinical Director of Movement Disorders in the Department of Neurology at Loma Linda University Medical Center in Loma Linda, CA. Dr. Swope earned his M.D. degree and completed his Neurology Residency at Loma Linda University, Loma Linda School of Medicine. He did his Fellowship training in Movement Disorders at Mt. Sinai Medical Center in New York. His research interests include Parkinson’s Disease and Dystonia. He has conducted a number of clinical research trials involving Parkinson’s patients, as well as clinical trials using Botox to treat migraines and Dystonia. He is a member of the American Academy of Neurology and the Movement Disorders Society. Dr. Swope has contributed to a number of publications in the field of Neurology and Movement Disorders.

Zeba Vanek, M.D. is an Assistant Professor of Neurology at UCLA and the Director of the UCLA Spasticity Clinic for the Movement Disorders and Parkinson’s Disease Program. Her clinical practice and research focuses on the management of Parkinson’s disease, tremors, dystonias, other movement disorders, and spasticity. She also runs a Botulinum Toxin Clinic at UCLA in which various movement disorders and pain syndromes are treated. Born and raised in Karachi, Pakistan, Dr. Vanek became fascinated by how the brain controls the different functions of the human body, especially the functions of speech, mobility, and abstract thinking. Dr. Vanek obtained her medical degree from the Dow Medical College in Karachi, Pakistan, received her postgraduate fellowship training in movement disorders at Queen Square Institute of Neurology, London, and did her neurology residency at the Baylor College of Medicine in Houston. She then began her career at UCLA in the Division of Neurological Services. During her training in London, Dr. Vanek had the opportunity to study under the late Professor David Marsden, one of the pioneers of movement disorders research. It was then she became interested in the subspecialty of neurology. Her recent focus is on the management and treatment of movement disorders and spasticity problems which includes the use of botulinum toxin injections (Botox and Myobloc).

Ryan Murphy is our symposium A/V Coordinator/Technician and in charge of all of the technical aspects of the symposium. He will also be videotaping this event. Ryan is attending college and majoring in Media Communication. Ryan is also Symposium Co-Coordinator Martha Murphy’s son.

8:15-9:00	*Registration & Light Breakfast*
9:00-9:20	*Welcome & Short Introduction* Neal Hermanowicz, M.D., Robert McAlister, Rosalie Lewis, Shoshana Beran & Martha Murphy
9:20-9:40	*“Classification of Dystonias”* Zeba Vanek, M.D.
9:40-10:00	*“Dystonia - Its Physiologic Basis and Surgical Treatment"* Mahlon DeLong, M.D.
10:00-10:20	*“Secondary Dystonias”* David Song, M.D.
10:20-10:40	*“Exercise & Brain Repair”* Giselle Petzinger, M.D.
10:40-11:00	BREAK
11:00-11:20	*“Botulinum Toxin Therapy”* David Swope, M.D.
11:20-11:40	*“Non-Toxin Therapies for Dystonia”* Mitchell Brin, M.D.
11:40-12:00	*“The Latest in Genetic Research”* Jennifer Friedman, M.D.
12:00-12:40	LUNCH BREAK ~ Luncheon Speaker: Glen Estrin, Co-founder of Musicians with Dystonia
12:40-1:30	*Panel Discussion with Morning Presenters (including Shoshana Beran - DBS patient)*
1:30-1:50	*Presentation of Dystonia Doctor of Excellent Awards*
1:50-2:10	*“Developing Effective Movement Strategies for Individuals with Dystonia”* Mary Hudson-McKinney, D.P.T.
2:10-2:25	Q/A for Dr. Hudson-McKinney
2:25-2:45	*“Stress Management & Emotional Wellness”* Karen Ross, Ph.D.
2:45-3:00	Q/A for Dr. Ross
3:00-3:15	AFTERNOON BREAK
3:15-3:35	*“Genetic Counseling”* Deborah de Leon, M.S.
3:35-3:50	Q/A for Ms. de Leon
3:50-4:10	*“Genetic Research Using Non-Human Models”* Lesilee Rose, Ph.D.
4:10-4:25	Q/A for Dr. Rose
4:25-4:35	*Closing Remarks*