Ataxia in childhood: a pragmatic approach
2019
Abstract Ataxia is a term used to describe a clinical presentation of incoordinated or inaccurate movements which occur without an alteration of tone or weakness. It is not a diagnosis, but its presentation has a wide differential diagnosis depending upon its onset. These can be a challenging group due to its varied aetiology. Broadly causes can be divided into genetic and acquired. Investigations are invasive and expensive. It is extremely important to liaise with a paediatric neurologist early following presentation as some of the ataxia are treatable. A methodological approach with history taking, detailed clinical evaluation and appropriate investigations are essential in establishing a diagnosis although it is still not uncommon to not to find a diagnosis in some of these children. Next generation exome sequencing is likely to improve the diagnostic yield in this group.
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