Treatable inherited rare movement disorders
| Autor: | Alberto Albanese, Janis M. Miyasaki, Ryuji Kaji, Connie Marras, Francisco Cardoso, Alberto J. Espay, Alexander Münchau, Emilia Gatto, Victor S.C. Fung, Gustavo Da Prat, Ludger Schöls, Joseph Jankovic, Andres de la Cerda, Marina A. J. Tijssen, Pedro J. Garcia-Ruiz, Hyder A. Jinnah, Kailash P. Bhatia, Maria Cruz Rodriguez Oroz, Pramod Kumar Pal, Oscar S. Gershanik, Mayela Rodríguez-Violante, Tom J. de Koning, Katya Kotschet, Francesca Morgante, Claudia Uribe Roca, Maria Stamelou |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Dystonia medicine.medical_specialty Pathology Movement disorders Neurology business.industry Disease Enzyme replacement therapy medicine.disease Clinical trial 03 medical and health sciences 030104 developmental biology 0302 clinical medicine medicine Neurology (clinical) medicine.symptom Inherited disease Intensive care medicine business 030217 neurology & neurosurgery Rare disease |
| Zdroj: | Movement Disorders. 33:21-35 |
| ISSN: | 0885-3185 |
| DOI: | 10.1002/mds.27140 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text