Genetic mimics of cerebral palsy

• Published in: Movement disorders Vol. 34; no. 5; pp. 625 - 636
• Main Authors: Pearson, Toni S., Pons, Roser, Ghaoui, Roula, Sue, Carolyn M.
• Format: Journal Article
• Language: English
• Published: Chichester, UK John Wiley & Sons, Ltd 01-05-2019; Wiley Subscription Services, Inc
• Subjects: Adenylyl Cyclases - genetics; Ataxia; Ataxia - physiopathology; Ataxia Telangiectasia - diagnosis; Ataxia Telangiectasia - genetics; Ataxia Telangiectasia - physiopathology; Ataxia Telangiectasia - therapy; Brain - diagnostic imaging; Brain Diseases, Metabolic, Inborn - diagnosis; Brain Diseases, Metabolic, Inborn - genetics; Brain Diseases, Metabolic, Inborn - physiopathology; Brain Diseases, Metabolic, Inborn - therapy; Carbohydrate Metabolism, Inborn Errors - diagnosis; Carbohydrate Metabolism, Inborn Errors - genetics; Carbohydrate Metabolism, Inborn Errors - physiopathology; Carbohydrate Metabolism, Inborn Errors - therapy; Cerebral palsy; Cerebral Palsy - diagnosis; Cerebral Palsy - physiopathology; Children; Chorea; Chorea - physiopathology; Creatine - deficiency; Creatine - genetics; Diagnosis, Differential; Dyskinesias - diagnosis; Dyskinesias - genetics; Dyskinesias - physiopathology; Dyskinesias - therapy; Dystonia; Dystonia - physiopathology; Etiology; Folic Acid Deficiency - diagnosis; Folic Acid Deficiency - genetics; Folic Acid Deficiency - physiopathology; Folic Acid Deficiency - therapy; Genetic counseling; Genetic disorders; GTP-Binding Protein alpha Subunits, Gi-Go - genetics; Humans; Hyperargininemia - diagnosis; Hyperargininemia - genetics; Hyperargininemia - physiopathology; Hyperargininemia - therapy; inborn errors of metabolism; Lesch-Nyhan Syndrome - diagnosis; Lesch-Nyhan Syndrome - genetics; Lesch-Nyhan Syndrome - physiopathology; Lesch-Nyhan Syndrome - therapy; Magnetic Resonance Imaging; Mental Retardation, X-Linked - diagnosis; Mental Retardation, X-Linked - genetics; Mental Retardation, X-Linked - physiopathology; Mental Retardation, X-Linked - therapy; Metabolic disorders; Monosaccharide Transport Proteins - deficiency; Monosaccharide Transport Proteins - genetics; Movement disorders; Movement Disorders - diagnosis; Movement Disorders - genetics; Movement Disorders - physiopathology; Movement Disorders - therapy; Multiple Carboxylase Deficiency - diagnosis; Multiple Carboxylase Deficiency - genetics; Multiple Carboxylase Deficiency - physiopathology; Multiple Carboxylase Deficiency - therapy; Muscle Spasticity - physiopathology; Neurodevelopmental disorders; Neuroimaging; Paralysis; Pelizaeus-Merzbacher Disease - diagnosis; Pelizaeus-Merzbacher Disease - genetics; Pelizaeus-Merzbacher Disease - physiopathology; Pelizaeus-Merzbacher Disease - therapy; Plasma Membrane Neurotransmitter Transport Proteins - deficiency; Plasma Membrane Neurotransmitter Transport Proteins - genetics; Spastic Paraplegia, Hereditary - diagnosis; Spastic Paraplegia, Hereditary - genetics; Spastic Paraplegia, Hereditary - physiopathology; Spastic Paraplegia, Hereditary - therapy; Spasticity; Thyroid Nuclear Factor 1 - genetics; cerebral palsy; inborn errors of metabolism; spasticity; ataxia; dystonia
• ISSN: 0885-3185; 1531-8257
• DOI: 10.1002/mds.27655

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