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Movement Disorders
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Article . 2017
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Movement Disorders
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Treatable inherited rare movement disorders

Authors: Jinnah, H. A.; Albanese, Alberto; Jankovic, Joseph; Kaji, Ryuji; Kotschet, Katya; Marras, Connie; Miyasaki, Janis M; +20 Authors

Treatable inherited rare movement disorders

Abstract

ABSTRACTThere 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

Countries
United Kingdom, Italy, Italy, Germany
Keywords

DIAGNOSTIC-APPROACH, genetics [Rare Diseases], Clinical Neurology, HYDROXYLASE DEFICIENCY, SYRUP-URINE-DISEASE, therapy [Rare Diseases], Rare Diseases, experimental therapeutics; inherited disease; orphan disease; Rare disease; treatment; Clinical Trials as Topic; Humans; Movement Disorders; Rare Diseases; Treatment Outcome, methods [Clinical Trials as Topic], Humans, orphan disease, ATAXIA-TELANGIECTASIA, experimental therapeutics, experimental therapeutics; inherited disease; orphan disease; Rare disease; treatment; Neurology; Neurology (clinical), Clinical Trials as Topic, Science & Technology, Movement Disorders, treatment, REDUCTASE DEFICIENCY, therapy [Movement Disorders], NEUROLOGICAL DISORDERS, genetics [Movement Disorders], inherited disease, Treatment Outcome, ACIDURIA TYPE-I, METABOLIC DISEASE, Neurosciences & Neurology, GLUT1 DEFICIENCY SYNDROME, Life Sciences & Biomedicine, Rare disease, CLINICAL-TRIALS, ddc: ddc:610

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    91
    popularity
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    Top 1%
    influence
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    impulse
    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
91
Top 1%
Top 10%
Top 1%
bronze