Volume 33, Issue 1 p. 21-35
Review

Treatable inherited rare movement disorders

H. A. Jinnah MD, PhD

Corresponding Author

H. A. Jinnah MD, PhD

Departments of Neurology, Human Genetics and Pediatrics, Emory University, Atlanta, Georgia, USA

Corresponding author: Dr. Emilia M. Gatto, Department of Neurology, Affiliated University of Buenos Aires, Buenos Aires, Argentina; [email protected]Search for more papers by this author
Alberto Albanese MD

Alberto Albanese MD

Department of Neurology, Humanitas Research Hospital, Rozzano, Italy

Catholic University, Milan, Italy

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Kailash P. Bhatia MD

Kailash P. Bhatia MD

Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology, London, United Kingdom

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Francisco Cardoso MD

Francisco Cardoso MD

Department of Internal Medicine, Movement Disorders Clinic, Neurology Service, UFMG, Belo Horizonte, MG, Brazil

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Gustavo Da Prat MD

Gustavo Da Prat MD

Department of Neurology, Affiliated University of Buenos Aires, Buenos Aires, Argentina

University DelSalvadore, Buenos Aires, Argentina

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Tom J. de Koning MD, PhD

Tom J. de Koning MD, PhD

Department of Genetics, Pediatrics and Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands

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Alberto J. Espay MD

Alberto J. Espay MD

James J. and Joan A. Gardner Center for Parkinson's disease and Movement Disorders, University of Cincinnati, Ohio, USA

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Victor Fung PhD, FRACP

Victor Fung PhD, FRACP

Movement Disorders Unit, Department of Neurology, Westmead Hospital & Sydney Medical School, University of Sydney, Sydney, Australia

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Pedro J. Garcia-Ruiz MD

Pedro J. Garcia-Ruiz MD

Department of Neurology, Fundacion Jimenez Diaz, Madrid, Spain

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Oscar Gershanik MD, PhD

Oscar Gershanik MD, PhD

Institute of Neuroscience, Favaloro Foundation University Hospital, Buenos Aires, Argentina

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Joseph Jankovic MD

Joseph Jankovic MD

Department of Neurology, Parkinson's Disease Center and Movement Disorders Clinic, Baylor College of Medicine, Houston, Texas, USA

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Ryuji Kaji MD, PhD

Ryuji Kaji MD, PhD

Department of Neurology, Tokushima University Graduate School of Medicine, Tokushima, Japan

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Katya Kotschet MD

Katya Kotschet MD

Clinical Neurosciences, St. Vincent's Health, Melbourne, Australia

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Connie Marras MD, PhD

Connie Marras MD, PhD

The Morton and Gloria Shulman Movement Disorders Centre and the Edmond J Safra Program in Parkinson's Disease, Toronto Western Hospital, University of Toronto, Toronto, Canada

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Janis M. Miyasaki MD, MEd

Janis M. Miyasaki MD, MEd

Division of Neurology, University of Alberta, Edmonton, Canada

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Francesca Morgante MD

Francesca Morgante MD

Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy

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Alexander Munchau MD

Alexander Munchau MD

Department of Pediatric and Adult Movement Disorders and Neuropsychiatry, Institute of Neurogenetics, University of Lübeck, Lübeck, Germany

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Pramod Kumar Pal MBBS, MD, DM

Pramod Kumar Pal MBBS, MD, DM

Department of Neurology, National Institute of Mental Health & Neuroscience, Bangalore, India

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Maria C. Rodriguez Oroz MD

Maria C. Rodriguez Oroz MD

University Hospital Donostia, Madrid, Spain

BioDonostia Research Institute, Basque Center on Cognition, Brain and Language, San Sebastian, Madrid, Spain

Ikerbasque, Basque Foundation for Science, Bilbao, Spain

Network Center for Biomedical Research in Neurodegenerative Diseases, Madrid, Spain

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Mayela Rodríguez-Violante MD

Mayela Rodríguez-Violante MD

Movement Disorders Clinic, National Institute of Neurology and Neurosurgery, Mexico City, Mexico

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Ludger Schöls MD

Ludger Schöls MD

Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany

German Center for Neurodegenerative Diseases, Tubingen, Germany

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Maria Stamelou MD

Maria Stamelou MD

Neurology Clinic, Philipps University Marburg, Marburg, Germany

Parkinson's Disease and Other Movement Disorders Department, HYGEIA Hospital, Athens, Greece

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Marina Tijssen MD, PhD

Marina Tijssen MD, PhD

Department of Neurology, University Medical Center Groningen, University of Groningen, The Netherlands

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Claudia Uribe Roca MD

Claudia Uribe Roca MD

Department of Neurology, British Hospital of Buenos Aires, Buenos Aires, Argentina

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Andres de la Cerda MD

Andres de la Cerda MD

Clinica Davila, CINSAN, Universidad de los Andes, Santiago, Chile

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Emilia M. Gatto MD

Corresponding Author

Emilia M. Gatto MD

Department of Neurology, Affiliated University of Buenos Aires and University DelSalvadore, Buenos Aires, Argentina

Corresponding author: Dr. Emilia M. Gatto, Department of Neurology, Affiliated University of Buenos Aires, Buenos Aires, Argentina; [email protected]Search for more papers by this author
for the International Parkinson's Disease Movement Disorders Society Task Force on Rare Movement Disorders

for the International Parkinson's Disease Movement Disorders Society Task Force on Rare Movement Disorders

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First published: 01 September 2017
Citations: 78

Relevant conflicts of interests/financial disclosures: Nothing to report.

ABSTRACT

There are many rare movement disorders, and new ones are described every year. Because they are not well recognized, they often go undiagnosed for long periods of time. However, early diagnosis is becoming increasingly important. Rapid advances in our understanding of the biological mechanisms responsible for many rare disorders have enabled the development of specific treatments for some of them. Well-known historical examples include Wilson disease and dopa-responsive dystonia, for which specific and highly effective treatments have life-altering effects. In recent years, similarly specific and effective treatments have been developed for more than 30 rare inherited movement disorders. These treatments include specific medications, dietary changes, avoidance or management of certain triggers, enzyme replacement therapy, and others. This list of treatable rare movement disorders is likely to grow during the next few years because a number of additional promising treatments are actively being developed or evaluated in clinical trials. © 2017 International Parkinson and Movement Disorder Society