Inborn errors of metabolism and motor disturbances in children.
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Inborn errors of metabolism and motor disturbances in children. / García-Cazorla, A; Wolf, Nicole I; Serrano, M; Pérez-Dueñas, B; Pineda, M; Campistol, J; Fernández-Alvarez, E; Colomer, J; DiMauro, S; Hoffmann, G F.
In: J INHERIT METAB DIS, Vol. 32, No. 5, 5, 2009, p. 618-629.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Inborn errors of metabolism and motor disturbances in children.
AU - García-Cazorla, A
AU - Wolf, Nicole I
AU - Serrano, M
AU - Pérez-Dueñas, B
AU - Pineda, M
AU - Campistol, J
AU - Fernández-Alvarez, E
AU - Colomer, J
AU - DiMauro, S
AU - Hoffmann, G F
PY - 2009
Y1 - 2009
N2 - Motor disturbances are very common in paediatric neurology. Often families can be reassured that these are just variants of normal development. However, abnormal movements can also be the hallmark of severe brain dysfunction of different and complex origins. This review concentrates on motor disturbances as frequent and important symptoms of inborn errors of metabolism. A structured diagnostic approach is developed taking into account age-dependent physiological developments and pathophysiological responses of gross and fine motor functions. A series of investigations are presented with the primary aim of early diagnosis of treatable conditions. The correct recognition and differentiation of movement disorders (ataxia, rigid akinetic syndrome (Fparkinsonism_), dystonia, athetosis, tremor,and others), spasticity, and neuromuscular disorders, requires profound neurological expertise. A high level of suspicion and close interaction between paediatric neurologists and specialists in inborn errors of metabolism are indispensable to effectively and timely identify patients in whom motor disturbances are the presenting and/or main symptom of an inborn error.
AB - Motor disturbances are very common in paediatric neurology. Often families can be reassured that these are just variants of normal development. However, abnormal movements can also be the hallmark of severe brain dysfunction of different and complex origins. This review concentrates on motor disturbances as frequent and important symptoms of inborn errors of metabolism. A structured diagnostic approach is developed taking into account age-dependent physiological developments and pathophysiological responses of gross and fine motor functions. A series of investigations are presented with the primary aim of early diagnosis of treatable conditions. The correct recognition and differentiation of movement disorders (ataxia, rigid akinetic syndrome (Fparkinsonism_), dystonia, athetosis, tremor,and others), spasticity, and neuromuscular disorders, requires profound neurological expertise. A high level of suspicion and close interaction between paediatric neurologists and specialists in inborn errors of metabolism are indispensable to effectively and timely identify patients in whom motor disturbances are the presenting and/or main symptom of an inborn error.
KW - Diagnosis, Differential
KW - Humans
KW - Child
KW - Algorithms
KW - Metabolism, Inborn Errors complications
KW - Motor Neuron Disease diagnosis
KW - Movement Disorders diagnosis
KW - Muscle Spasticity diagnosis
KW - Peripheral Nervous System Diseases diagnosis
KW - Diagnosis, Differential
KW - Humans
KW - Child
KW - Algorithms
KW - Metabolism, Inborn Errors complications
KW - Motor Neuron Disease diagnosis
KW - Movement Disorders diagnosis
KW - Muscle Spasticity diagnosis
KW - Peripheral Nervous System Diseases diagnosis
M3 - SCORING: Zeitschriftenaufsatz
VL - 32
SP - 618
EP - 629
JO - J INHERIT METAB DIS
JF - J INHERIT METAB DIS
SN - 0141-8955
IS - 5
M1 - 5
ER -
