Pathology

Neuroscience

Pediatrics

Motor disorder

Movement disorders

Dystonia

Disease

Central nervous system disease

Cerebral palsy

Neurological disorder

Ataxia

Psychiatry

Etiology

Psychology

Chorea

Cerebellar ataxia

Choreoathetosis

Spasticity

Hypotonia

Neuroimaging

Medicine

Physical medicine and rehabilitation

Movement Disorders

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. © 2019 International Parkinson and Movement Disorder Society

Genetic mimics of cerebral palsy