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Search Results for all work with filters:

  • Jinnah, Hyder
  • Biology, Neuroscience
  • biomedicin
  • diagnosticapproach
  • Neurology: Movement Disor

Work 1-2 of 2

Sorted by relevance

Article

Treatable Inherited Rare Movement Disorders

by Hyder 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 Rodriguez-Violante; Ludger Schoels; Maria Stamelou; Marina Tijssen; Claudia Uribe Roca; Andres de la Cerda; Emilia M. Gatto

2018

Subjects
  • Biology, Neuroscience
  • Biology, Genetics
  • File Download
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Abstract:Close

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.

Article

Assessment of patients with isolated or combined dystonia: An update on dystonia syndromes

by Victor S. C. Fung; Hyder Jinnah; Kailash Bhatia; Marie Vidailhet

2013

Subjects
  • Biology, Neuroscience
  • Psychology, Physiological
  • File Download
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Abstract:Close

The clinical evaluation of a patient with dystonia is a stepwise process, beginning with classification of the phenomenology of the movement disorder(s), then formulation of the dystonia syndrome, which, in turn, leads to a targeted etiological differential diagnosis. In recent years, there have been significant advances in our understanding of the etiological basis of dystonia, aided especially by discoveries in imaging and genetics. In this review, we provide an update on the assessment of a patient with dystonia, including the phenomenology of dystonia and highlighting how to integrate clinical, imaging, blood, and neurophysiological investigations in order to formulate a dystonia syndrome. Evolving or emerging dystonia syndromes are reviewed, and potential etiologies of these as well as established dystonia syndromes listed to guide diagnostic testing.
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