Katrina M Moore, Nicole I Wolf, Grace Hobson, Kristina Bowyer, Jordan McSherry, Gail Hartin, Claire Wilde, Stacey Shapiro, Jason Frank, David Manley, Candice Junge
Pelizaeus-Merzbacher disease is a rare X-linked leukodystrophy accompanied by central nervous system hypomyelination with a spectrum of clinical phenotypes. This is the first survey of caregivers of individuals with Pelizaeus-Merzbacher disease to investigate the presenting symptoms, path to diagnosis, identity and impact of most bothersome symptoms, and needs that future treatment should address. One hundred participants completed the survey. Results from this survey demonstrate that the majority of Pelizaeus-Merzbacher disease symptoms manifest before 2 years of age and commonly include deficits in gross and fine motor skills, speech, and communication...
February 6, 2023: Journal of Child Neurology