Natural History, Diagnosis, and Outcomes for Leukodystrophies

Inherited leukodystrophies affect close to 1 in 7500 children with mortality greater than 30%. Affected patients face additional serious medical complications including epilepsy, developmental regression, and intellectual disabilities. Diagnosis is difficult and requires the assistance of a specialist. Finally, identifying treatments and improving outcomes is complex. The Western Leukodystrophy Project, which is part of the University of Utah and of Primary Children's Hospital, and which is a certified Leukodystrophy Care Network Center, provides a specialized resource for patients with leukodystrophies. This clinical study assists with diagnosis of leukodystrophies; suggesting treatment options and implementing care guidelines, and improving outcomes for all patients by understanding the clinical histories and outcomes of affected patients..