Association of Diagnosis of Leukodystrophy With Race and Ethnicity Among Pediatric and Adolescent Patients

Key Points Question Are there disparities in leukodystrophy diagnosis in patients of different racial and ethnic backgrounds? Findings This case-control study of 557 patients with a diagnosis of leukodystrophy found that US patients of racial/ethnic minorities, including those from black, black Hispanic, and white Hispanic backgrounds, were significantly less likely to be diagnosed with a leukodystrophy. Furthermore, leukodystrophy disease–associated gene allele frequencies were the same or higher in populations of Latino or African descent. Meaning Patients of racial/ethnic minorities are being underdiagnosed for leukodystrophies, which can result in a lack of treatment or insufficient treatment.