Genetic mimics of cerebral palsy.

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

Journal: Movement disorders : official journal of the Movement Disorder Society 2020;34(5):625-636

PMID: 30913345

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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. © 2019 International Parkinson and Movement Disorder Society.

Address: Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.; First Department of Pediatrics, National and Kapodistrian University of Athens, Aghia Sofia Hospital, Athens, Greece.; Department of Neurology, Royal Adelaide Hospital, Adelaide, South Australia, Australia.; Department of Neurogenetics, Kolling Institute, Royal North Shore Hospital and University of Sydney, St Leonards, NSW, Australia.

DOI: 10.1002/mds.27655

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MeSH Terms: Adenylyl Cyclases, Ataxia, Ataxia Telangiectasia, Brain, Brain Diseases, Metabolic, Inborn, Carbohydrate Metabolism, Inborn Errors, Cerebral Palsy, Chorea, Creatine, Diagnosis, Differential, Dyskinesias, Dystonia, Folic Acid Deficiency, GTP-Binding Protein alpha Subunits, Gi-Go, Humans, Hyperargininemia, Lesch-Nyhan Syndrome, Magnetic Resonance Imaging, X-Linked Intellectual Disability, Monosaccharide Transport Proteins, Movement Disorders, Multiple Carboxylase Deficiency, Muscle Spasticity, Pelizaeus-Merzbacher Disease, Plasma Membrane Neurotransmitter Transport Proteins, Spastic Paraplegia, Hereditary, Thyroid Nuclear Factor 1