Delayed diagnosis of ataxia with oculomotor apraxia type 2 in a Peruvian patient, a case report.

INTRODUCTION

Ataxia with oculomotor apraxia type 2 (AOA2) is a rare autosomal recessive cerebellar ataxia characterized by progressive cerebellar ataxia, sensorimotor peripheral neuropathy, and occasional oculomotor apraxia.

CASE REPORT: A 50-year-old male with a history of orthopedic shoe use since childhood presented with slowly progressive ataxia and neuropathy. Laboratory tests showed elevated serum alpha-fetoprotein levels and increased total cholesterol. Clinical whole genome sequencing identified a c.4853C > G (p.Ser1618Ter) homozygous pathogenic variant in SETX.

CONCLUSION

The case highlights the challenges identifying rare disorders like AOA2 due to limited access to genetic testing and socioeconomic and healthcare barriers.