Movement disorders in inherited metabolic diseases in children
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 ev...
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doaj-0800e70ec20c4bdfba8d13efbca90e002020-11-25T02:34:38ZengWolters Kluwer Medknow PublicationsAnnals of Indian Academy of Neurology0972-23271998-35492020-01-0123333233710.4103/aian.AIAN_612_19Movement disorders in inherited metabolic diseases in childrenArushi Gahlot SainiSuvasini SharmaMovement 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.http://www.annalsofian.org/article.asp?issn=0972-2327;year=2020;volume=23;issue=3;spage=332;epage=337;aulast=choreadystoniasgenetictremor |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Arushi Gahlot Saini Suvasini Sharma |
spellingShingle |
Arushi Gahlot Saini Suvasini Sharma Movement disorders in inherited metabolic diseases in children Annals of Indian Academy of Neurology chorea dystonias genetic tremor |
author_facet |
Arushi Gahlot Saini Suvasini Sharma |
author_sort |
Arushi Gahlot Saini |
title |
Movement disorders in inherited metabolic diseases in children |
title_short |
Movement disorders in inherited metabolic diseases in children |
title_full |
Movement disorders in inherited metabolic diseases in children |
title_fullStr |
Movement disorders in inherited metabolic diseases in children |
title_full_unstemmed |
Movement disorders in inherited metabolic diseases in children |
title_sort |
movement disorders in inherited metabolic diseases in children |
publisher |
Wolters Kluwer Medknow Publications |
series |
Annals of Indian Academy of Neurology |
issn |
0972-2327 1998-3549 |
publishDate |
2020-01-01 |
description |
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. |
topic |
chorea dystonias genetic tremor |
url |
http://www.annalsofian.org/article.asp?issn=0972-2327;year=2020;volume=23;issue=3;spage=332;epage=337;aulast= |
work_keys_str_mv |
AT arushigahlotsaini movementdisordersininheritedmetabolicdiseasesinchildren AT suvasinisharma movementdisordersininheritedmetabolicdiseasesinchildren |
_version_ |
1724807757805125632 |