eP226: Dual diagnoses in neurogenetics- A case series of pediatric movement disorders and clinical management

Genetics in Medicine(2022)

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摘要
Movement disorders are a heterogeneous group of diseases, however there is phenotypic overlap between the different conditions. Over the past 10 years, the identification of genetic causes of movement disorders has had a significant impact on the understanding of mechanisms and the phenotypic spectrum. Additionally, recent data suggests dual diagnoses may be more common than previously thought and found in 7% of cases. The increase in knowledge of the genetics also has important implications for clinical practice, treatment options, and genetic counseling.
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