
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
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
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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