Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study.

ABSTRACT:

Objective

Facioscapulohumeral dystrophy (FSHD) is one of the most frequent heritable muscular dystrophies, with a large variety in age at onset and disease severity. The natural history and molecular characteristics of FSHD in childhood are incompletely understood. Our objective is to clinically and genetically characterize FSHD in childhood.

Methods

We performed a nationwide, single-investigator, natural history study on FSHD in childhood.

Results

Multiple-source recruitment resulted in 32 patients with FSHD (0-17 years), leading to an estimated prevalence of 1 in 100,000 children in The Netherlands. This series of 32 children with FSHD revealed a heterogeneous phenotype and genotype in childhood. The phenotypic hallmarks of FSHD in childhood are: facial weakness wit

SUBMITTER: Goselink RJM 

PROVIDER: S-EPMC6282793 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature