Jinnah, HA;
Albanese, A;
Bhatia, KP;
Cardoso, F;
Da Prat, G;
de Koning, TJ;
Espay, AJ;
... Gatto, EM; + view all
(2017)
Treatable Inherited Rare Movement Disorders.
Movement Disorders
, 33
(1)
pp. 21-35.
10.1002/mds.27140.
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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.
| Type: | Article |
|---|---|
| Title: | Treatable Inherited Rare Movement Disorders |
| DOI: | 10.1002/mds.27140 |
| Publisher version: | https://doi.org/10.1002/mds.27140 |
| Language: | English |
| Additional information: | This version is the version of record. For information on re-use, please refer to the publisher’s terms and conditions. |
| Keywords: | Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Neurosciences & Neurology, Rare disease, orphan disease, inherited disease, treatment, experimental therapeutics, GLUT1 DEFICIENCY SYNDROME, SYRUP-URINE-DISEASE, ACIDURIA TYPE-I, ATAXIA-TELANGIECTASIA, DIAGNOSTIC-APPROACH, CLINICAL-TRIALS, HYDROXYLASE DEFICIENCY, NEUROLOGICAL DISORDERS, REDUCTASE DEFICIENCY, METABOLIC DISEASE |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10032311 |
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