Treatable inherited rare movement disorders

Forskningsoutput: TidskriftsbidragÖversiktsartikel


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.


  • H. A. Jinnah
  • Alberto Albanese
  • Kailash P. Bhatia
  • Francisco Cardoso
  • Gustavo Da Prat
  • Tom J. de Koning
  • Alberto J. Espay
  • Victor Fung
  • Pedro J. Garcia-Ruiz
  • Oscar Gershanik
  • Joseph Jankovic
  • Ryuji Kaji
  • Katya Kotschet
  • Connie Marras
  • Janis M. Miyasaki
  • Francesca Morgante
  • Alexander Munchau
  • Pramod Kumar Pal
  • Maria C. Rodriguez Oroz
  • Mayela Rodríguez-Violante
  • Ludger Schöls
  • Maria Stamelou
  • Marina Tijssen
  • Claudia Uribe Roca
  • Andres de la Cerda
  • Emilia M. Gatto
  • for the International Parkinson's Disease Movement Disorders Society Task Force on Rare Movement Disorders
Externa organisationer
  • Emory University
  • Humanitas Clinical and Research Center
  • Catholic University of the Sacred Heart, Milan
  • University College London
  • Federal University of Minas Gerais
  • University of Buenos Aires
  • University del Salvadore
  • University Medical Center Groningen
  • University of Cincinnati
  • University of Sydney
  • Hospital Fundación Jiménez Díaz
  • Favaloro Foundation University Hospital
  • Baylor College of Medicine
  • Tokushima University
  • St. Vincent's Health
  • University of Toronto
  • University of Alberta
  • University of Messina
  • British Columbia Children's Hospital
  • National Institute of Mental Health and Neurosciences, Bangalore
  • Hospital Universitario Donostia
  • Basque Center on Cognition, Brain and Language
  • Basque Foundation for Science
  • CIBER Enfermedades Neurodegenerativas (CIBERNED)
  • Instituto Nacional de Neurología y Neurocirugía
  • University of Tübingen
  • German Center for Neurodegenerative Diseases
  • Philipp University of Marburg
  • Hygeia Hospital
  • British Hospital of Buenos Aires
  • Universidad de los Andes, Chile

Ämnesklassifikation (UKÄ) – OBLIGATORISK

  • Neurologi


Sidor (från-till)21-35
Antal sidor15
TidskriftMovement Disorders
Utgåva nummer1
StatusPublished - 2018 jan 1
Peer review utfördJa
Externt publiceradJa