Aproximación diagnóstica de las ataxias hereditarias en el Perú: Diagnostic approach to hereditary ataxias in Peru

Hereditary ataxias represent a diverse group of neurogenetic disorders characterized by impairments in motor coordination due to dysfunction of the cerebellum or its associated pathways. These diseases include autosomal dominant, recessive, X-linked, and mitochondrial forms. The diagnosis and management of hereditary ataxias are complex and face additional challenges in resource-limited regions such as Peru and other Latin American countries. This review proposes a structured diagnostic approach for hereditary ataxias based on five key pillars: (1) confirmation of the type of ataxia (cerebellar or non-cerebellar), (2) age of onset, (3) mode of presentation (predominantly pure or plus), (4) family history, and (5) exclusion of reversible or secondary causes. The most useful ancillary test/procedures for differential diagnosis depending on the information from the 5 axes include serum analyses, neuroimaging, neurophysiological studies, neuro-ophthalmological evaluations, vestibular testing, and genetic studies (specific gene testing, genetic panels, exome sequencing, and clinical genome analysis). Implementing a diagnostic approach based on these pillars optimizes both the diagnosis and clinical management of hereditary ataxias, especially in resource-limited settings.