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Inborn errors of metabolism and motor disturbances in children
Author(s) -
GarcíaCazorla A.,
Wolf N. I.,
Serrano M.,
PérezDueñas B.,
Pineda M.,
Campistol J.,
FernándezAlvarez E.,
Colomer J.,
DiMauro S.,
Hoffmann G. F.
Publication year - 2009
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-009-1194-9
Subject(s) - athetosis , spasticity , dystonia , movement disorders , ataxia , neurology , medicine , inborn error of metabolism , neurological disorder , pediatrics , physical medicine and rehabilitation , neuroscience , psychology , chorea , psychiatry , central nervous system disease , disease , pathology
Summary 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 (‘parkinsonism’), 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.