Inherited Metabolic Disorders with Associated Movement Abnormalities

作者: Harvey S. Singer , Jonathan W. Mink , Donald L. Gilbert , Joseph Jankovic

DOI: 10.1016/B978-0-12-411573-6.00017-6

关键词:

摘要: Numerous metabolic disorders, many rare, can result in motor abnormalities. Most conditions are inherited, with manifesting childhood and adolescence, less commonly adulthood. Metabolic disorders have a variety of clinical presentations ranging from acute symptoms the neonatal period to slower, more gradual onsets at later age. Associated movement abnormalities variable typified by evolving including chorea, dystonia, tremor, myoclonus, Parkinsonism. In this chapter, abnormality, presentation, diagnosis, treatment for various presented disorder-based framework.

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