Ataxia in children: early recognition and clinical evaluation.

Ital J Pediatr

Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy.

Published: January 2017

Background: Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance. It is mainly caused by dysfunction of the complex circuitry connecting the basal ganglia, cerebellum and cerebral cortex. A careful history, physical examination and some characteristic maneuvers are useful for the diagnosis of ataxia. Some of the causes of ataxia point toward a benign course, but some cases of ataxia can be severe and particularly frightening.

Methods: Here, we describe the primary clinical ways of detecting ataxia, a sign not easily recognizable in children. We also report on the main disorders that cause ataxia in children.

Results: The causal events are distinguished and reported according to the course of the disorder: acute, intermittent, chronic-non-progressive and chronic-progressive.

Conclusions: Molecular research in the field of ataxia in children is rapidly expanding; on the contrary no similar results have been attained in the field of the treatment since most of the congenital forms remain fully untreatable. Rapid recognition and clinical evaluation of ataxia in children remains of great relevance for therapeutic results and prognostic counseling.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5347818PMC
http://dx.doi.org/10.1186/s13052-016-0325-9DOI Listing

Publication Analysis

Top Keywords

ataxia children
12
ataxia
9
recognition clinical
8
clinical evaluation
8
ataxia sign
8
children early
4
early recognition
4
evaluation background
4
background ataxia
4
sign disorders
4

Similar Publications

Autoimmune cerebellar ataxia (ACA) is a cerebellar syndrome induced by autoimmune reactions and its onset is induced by malignant tumors, prodromic infection, and gluten allergy. Its clinical symptoms include gait disorder, limb ataxia, dysarthria, and dysphagia. According to , the diagnosis of ACA is based on the following points: 1.

View Article and Find Full Text PDF

Post-infectious acute cerebellar ataxia in a young adult.

BMJ Case Rep

January 2025

Institute of Neurological Sciences, Prince of Wales Hospital and the University of New South Wales, Randwick, Sydney, New South Wales, Australia

Acute cerebellar ataxia is a clinical syndrome that involves loss of balance and coordination, typically within less than 72 hours. It usually presents in children and rarely affect adults. A woman in her early 20s presented with acute onset dizziness, vertigo, truncal ataxia and dysarthria 2 weeks following an acute viral illness.

View Article and Find Full Text PDF

Serum metabolomic signatures of patients with rare neurogenetic diseases: an insight into potential biomarkers and treatment targets.

Front Mol Neurosci

January 2025

Interdisciplinary Centre for Innovations in Biotechnology and Neuroscience, Faculty of Medical Sciences, University of Sri Jayewardenepura, Nugegoda, Sri Lanka.

Introduction: To further advance our understanding of Muscular Dystrophies (MDs) and Spinocerebellar Ataxias (SCAs), it is necessary to identify the biological patterns associated with disease pathology. Although progress has been made in the fields of genetics and transcriptomics, there is a need for proteomics and metabolomics studies. The present study aimed to be the first to document serum metabolic signatures of MDs (DMD, BMD, and LGMD 2A) SCAs (SCA 1-3), from a South Asian perspective.

View Article and Find Full Text PDF

Pathogenic variants in , encoding dynamin-like protein-1 (DRP1), cause a lethal encephalopathy. DRP1 defective function results in altered mitochondrial networks, characterized by elongated/spaghetti-like, highly interconnected mitochondria. We validated in yeast the pathogenicity of a de novo variant identified by whole exome sequencing performed more than 10 years after the patient's death.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!