Open AccessMovement disorders in inherited metabolic diseases in children
Author(s) -
Arushi Gahlot Saini,
Suvasini Sharma
Publication year - 2020
Publication title -
annals of indian academy of neurology
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.427
H-Index - 31
eISSN - 1998-3549
pISSN - 0972-2327
DOI - 10.4103/aian.aian_612_19
Subject(s) - medicine , movement disorders , sibling , disease , pediatrics , consanguinity , pathology , developmental psychology , psychology
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.