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Article

Pelizaeus-Merzbacher Disease: A Caregiver Assessment of Disease Impact.

Journal of child neurology - 1 Feb 2023

Moore Katrina M, Wolf Nicole I, Hobson Grace, Bowyer Kristina, McSherry Jordan, Hartin Gail, Wilde Claire, Shapiro Stacey, Frank Jason, Manley David, Junge Candice

Abstract excerpt

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...

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PMID: 36744386
DOI: 10.1177/08830738231152658

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