1. Genetic mimics of cerebral palsy.
- Author
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Pearson TS, Pons R, Ghaoui R, and Sue CM
- Subjects
- Adenylyl Cyclases genetics, 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 physiopathology, Chorea physiopathology, Creatine deficiency, Creatine genetics, Dyskinesias diagnosis, Dyskinesias genetics, Dyskinesias physiopathology, Dyskinesias therapy, Dystonia physiopathology, Folic Acid Deficiency diagnosis, Folic Acid Deficiency genetics, Folic Acid Deficiency physiopathology, Folic Acid Deficiency therapy, GTP-Binding Protein alpha Subunits, Gi-Go genetics, Humans, Hyperargininemia diagnosis, Hyperargininemia genetics, Hyperargininemia physiopathology, Hyperargininemia therapy, 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, Monosaccharide Transport Proteins deficiency, Monosaccharide Transport Proteins genetics, 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, 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, Thyroid Nuclear Factor 1 genetics, Cerebral Palsy diagnosis, Diagnosis, Differential, Movement Disorders diagnosis
- 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., (© 2019 International Parkinson and Movement Disorder Society.)
- Published
- 2019
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