Τίτλος:
Genetic mimics of cerebral palsy
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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
Συγγραφείς:
Pearson, T.S.
Pons, R.
Ghaoui, R.
Sue, C.M.
Περιοδικό:
Movement Disorders
Εκδότης:
John Wiley and Sons Inc
Λέξεις-κλειδιά:
arginase; carboxylase; carboxylic acid; creatine; glucose transporter 1; adenylate cyclase; adenylyl cyclase type V; creatine; glucose transporter; GNAO1 protein, human; homeobox protein Nkx 2.1; inhibitory guanine nucleotide binding protein; NKX2-1 protein, human; plasma membrane neurotransmitter transporter, acquired brain injury; apraxia; ataxia; ataxia telangiectasia; brain atrophy; cerebral palsy; chorea; clinical examination; clinical feature; demyelination; disease course; dyskinesia; dystonia; enzyme deficiency; epilepsy; folic acid deficiency; foxg1 gene; gene; genetic counseling; genetic disorder; genetic screening; globus pallidus; gnao1 gene; human; Huntington chorea; Lesch Nyhan syndrome; metabolic disorder; motor dysfunction; neuroimaging; neuromuscular disease; nuclear magnetic resonance imaging; oculogyric crisis; Pelizaeus Merzbacher disease; priority journal; prognosis; Review; risk factor; spasticity; ataxia telangiectasia; brain; cerebral palsy; chorea; diagnostic imaging; differential diagnosis; disorders of carbohydrate metabolism; dyskinesia; folic acid deficiency; genetics; hereditary motor sensory neuropathy; hyperargininemia; Lesch Nyhan syndrome; metabolic encephalopathy; motor dysfunction; pathophysiology; Pelizaeus Merzbacher disease; X linked mental retardation, 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; Mental Retardation, X-Linked; 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
