2026 American Academy of Neurology Abstract Website

Objective:

N/A

Background:

Dysarthria is almost universally present in the course of spinocerebellar ataxias (SCA). However, it is less common to present as the initial symptom. In some SCAs, the features of dysarthria may differ from those usually associated with cerebellar disease. Further understanding of dysarthria features in SCAs can provide useful information for the diagnosis and treatment.

Design/Methods:

We present the case of a patient with spinocerebellar ataxia type 6 (SCA6) who presented with isolated dysarthria. The dysarthria was described as mixed due to the presence of ataxic and flaccid features. We review the literature on the prevalence of dysarthria in the context of SCAs and provide a summary of the features described in the literature.

Results:

A 56-year-old male presented with eighteen months of progressive difficulties with speech and swallowing. On exam, the patient had slow, hypernasal, and breathy speech, with variability in stress of syllables and imprecision in consonant pronunciation. Alternating motion rates (AMRs) and sequential motion rates (SMRs) were equally impaired. His exam was otherwise unremarkable. There was an initial concern for a motor neuron syndrome. However, given the presence of a family history of dysarthria in the father and the presence of cerebellar atrophy in the MRI, a genetic etiology was evaluated. Genetic workup was remarkable for 22 repeats in the CACNA1A gene, associated with SCA6.

Conclusions:

Dysarthria is often present in SCAs but is rarely the presenting symptom. This may lead to the disregard of SCA in the differential diagnosis of an isolated progressive dysarthria, particularly if features other than those associated with ataxia are present. This case and our review of the literature show that SCA should be considered in the context of isolated dysarthria, particularly in the context of a family history of ataxia.