Movement disorders in inherited metabolic diseases in children

Movement disorders in inherited metabolic diseases in children

Saini A; Sharma S

Annals of Indian Academy of Neurology

2020

chorea; dystonias; genetic; inherited metabolic diseases; movement disorders; pediatrics; tremor

Movement disorders are one of the important neurological manifestations of inherited metabolic disorders. Important clues to the presence of an underlying inborn error of metabolism are early onset, presence of neuroregression or degeneration, parental consanguinity, sibling affection, paroxysmal events, waxing and waning course, skin or hair changes, absence of a perinatal insult or any structural cause, and presence of identifiable triggers. It is particularly important to recognize this class of movement disorders as several of them are eminently treatable and may often need disease-specific therapy besides symptomatic treatment. The current review focusses on the movement disorders associated with inherited metabolic defects in children, with emphasis on treatable disorders. Copyright © 2006 - 2020 Annals of Indian Academy of Neurology Published by Wolters Kluwer - Medknow.

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