Genetic mimics of cerebral palsy

Toni S. Pearson, Roser Pons, Roula Ghaoui, Carolyn M. Sue

Research output: Contribution to journalReview articlepeer-review

10 Scopus citations

Abstract

The term “cerebral palsy mimic” is used to describe a number of neurogenetic disorders that may present with motor symptoms in early childhood, resulting in a misdiagnosis of cerebral palsy. Cerebral palsy describes a heterogeneous group of neurodevelopmental disorders characterized by onset in infancy or early childhood of motor symptoms (including hypotonia, spasticity, dystonia, and chorea), often accompanied by developmental delay. The primary etiology of a cerebral palsy syndrome should always be identified if possible. This is particularly important in the case of genetic or metabolic disorders that have specific disease-modifying treatment. In this article, we discuss clinical features that should alert the clinician to the possibility of a cerebral palsy mimic, provide a practical framework for selecting and interpreting neuroimaging, biochemical, and genetic investigations, and highlight selected conditions that may present with predominant spasticity, dystonia/chorea, and ataxia. Making a precise diagnosis of a genetic disorder has important implications for treatment, and for advising the family regarding prognosis and genetic counseling.

Original languageEnglish
Pages (from-to)625-636
Number of pages12
JournalMovement Disorders
Volume34
Issue number5
DOIs
StatePublished - May 2019

Keywords

  • ataxia
  • cerebral palsy
  • dystonia
  • inborn errors of metabolism
  • spasticity

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