Phenotypic expression of swallowing function in Niemann-Pick disease type C1.

ABSTRACT:

Background

Niemann-Pick disease type C1 (NPC1) is a rare autosomal recessive disease characterized by endolysosomal accumulation of unesterified cholesterol with progressive deterioration in swallowing, often leading to premature death. Although documented, the natural history of NPC1 swallowing dysfunction has yet to be delineated systematically. This manuscript aims to provide a comprehensive characterization of the phenotypic spectrum and progression of swallowing dysfunction in NPC1.

Methodology

The National Institutes of Health (NIH) NPC1 natural history study (NCT00344331) enrolled 120 patients, who underwent comprehensive interpretative swallow assessments for swallowing safety, dietary modifications, and aspiration risk. Longitudinal statistical modeling accounted fo

SUBMITTER: Solomon BI 

PROVIDER: S-EPMC9446530 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature