Movement disorders in inherited metabolic diseases in children
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.
Saini A; Sharma S
Annals of Indian Academy of Neurology
2020
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.4103/aian.AIAN_612_19" target="_blank" rel="noreferrer noopener">10.4103/aian.AIAN_612_19</a>
Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type
Neurosciences & Neurology; dystonia; Rett syndrome; females; rigidity; stereotypies; chorea; Parkinson; tremor; tone and motor problems; trajectory; characteristics; movement disorders
Rett syndrome (RS) is one of the best human models to study movement disorders. Patients evolve from a hyperkinetic to a hypokinetic state, and a large series of abnormal movements may be observed along their lives Such as stereotypies, tremor, chorea, myoclonus. ataxia, dystonia, and rigidity. The aim of this work was to analyze movement disorders in RS patients with a detected MECP2 mutation, as well as their correlation with genotype, in a clinically and genetically well-characterized sample of patients, and thus Contribute to redefine the clinical profile of this disease. In this study, we included 60 patients with detected MECP2 mutations. These were categorized and grouped for analysis, according to (1) type of change (missense or truncating. including nonsense and frameshift but also large deletions) and (2) location of the mutation. Differences were found concerning the frequency of independent gait. dystonia, type of tremor. and global score severity when comparing the group of patient S with missense and truncating, Mutations. We also found differences in the presence. distribution, severity, or type of movement disorders in the two groups of patients according to the median duration of the disease (less than 60 months: 60 months or more). We conclude that movement disorders seem to reflect the severity and rate of progression of Rett disorder, patients with truncating mutations presenting a higher rate and more severe dystonia and rigid-akinetic syndrome. when comparing groups with similar time of disease evolution. (C) 2008 Movement Disorder Society.
Temudo T; Ramos E; Dias K; Barbot C; Vieira J P; Moreira A; Calado E; Carrilho I; Oliveira G; Levy A; Fonseca M; Cabral A; Cabral P; Monteiro J P; Borges L; Gomes R; Santos M; Sequeiros J; Maciel P
Movement Disorders
2008
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1002/mds.22115" target="_blank" rel="noreferrer noopener">10.1002/mds.22115</a>
Observations on Huntington's Chorea in Childhood
Child; Prognosis; Mental Disorders; Movement Disorders; Medical; Q3 Literature Search; Diagnosis; Radiography; Pathology; CHOREA; CHOREA; Genetics; Genetics; HEREDITARY; Human; VENTRICULOGRAPHY
1965
MARKHAM CH; JWKNOX
The Journal Of Pediatrics
1965
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
<a href="http://doi.org/10.1016/s0022-3476(65)80303-1" target="_blank" rel="noreferrer">10.1016/s0022-3476(65)80303-1</a>