Adolescence is a period of rapid development and a variety of genetic disorders present during this time due to difficulties with motor and cognitive skills. A very rare group of diseases is genetic Pontocerebellar Hypoplasia, characterized by a developmentally small cerebellum that leads to ataxia and movement abnormalities. Here, we present a case of a young boy who presented with ataxia and falls.
No takes yet. Share an insight, caveat, or question.
Khan et al. (2024) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: