Author:
Munoz Chesta Daniela,Troncoso-Schifferli Mónica
Abstract
Childhood presentations of ataxia can often be challenging to diagnose. Recognising ataxia is especially difficult in young children, the most frequent reason for consultation is walking instability and loss of balance. Clinical presentations tend to be heterogeneous; key considerations may vary based on the age of onset, time course, and associated manifestations. Ataxias can be acute, intermittent, chronic non-progressive, or chronic progressive conditions. Acute ataxias are mostly acquired conditions (post-infectious or immune-mediated). Intermittent ataxias may be secondary to genetic channelopathies or metabolic diseases. Non-progressive chronic ataxias are mostly related to cerebellar malformations and progressive chronic ataxias are usually secondary to genetic variants, which in children are usually autosomal recessive conditions. A complete medical history and a detailed physical examination are essential for an adequate approach. Treatment of a child with ataxia depends on the aetiology. One of the most important challenges is to identify the treatable causes.