biostudies-literatureWens SCZonMw182https://www.ebi.ac.uk/biostudies/studies/S-EPMC3843594biostudies-literatureUnknown8<h4>Background</h4>Pompe disease has a broad clinical spectrum, in which the phenotype is partially explained by the genotype. The aim of this study was to describe phenotypical variation among siblings with non-classic Pompe disease. We hypothesized that siblings and families with the same genotype share more similar phenotypes than the total population of non-classic Pompe patients, and that this might reveal genotype-phenotype correlations.<h4>Methods</h4>We identified all Dutch families in which two or three siblings were diagnosed with Pompe disease and described genotype, acid α-glucosidase activity, age at symptom onset, presenting symptoms, specific clinical features, mobility and ventilator dependency.<h4>Results</h4>We identified 22 families comprising two or three siblings. All Orphanet journal of rare diseasesPhenotypical variation within 22 families with Pompe disease.PMC3843594152001005Kruijshaar MEBrusse Evan Doorn PAWens SCReuser AJvan Gelder CMde Vries JMvan der Beek NAvan der Ploeg ATfalsePhenotypical variation within 22 families with Pompe disease.<h4>Background</h4>Pompe disease has a broad clinical spectrum, in which the phenotype is partially explained by the genotype. The aim of this study was to describe phenotypical variation among siblings with non-classic Pompe disease. We hypothesized that siblings and families with the same genotype share more similar phenotypes than the total population of non-classic Pompe patients, and that this might reveal genotype-phenotype correlations.<h4>Methods</h4>We identified all Dutch families in which two or three siblings were diagnosed with Pompe disease and described genotype, acid α-glucosidase activity, age at symptom onset, presenting symptoms, specific clinical features, mobility and ventilator dependency.<h4>Results</h4>We identified 22 families comprising two or three siblings. All 2013-01-01T00:00:00Z2013 Nov2026-04-07T20:30:28.196Z2026-04-07T17:37:02.211ZS-EPMC38435942424557710.1186/1750-1172-8-182