Disease burden and functional outcomes in congenital myotonic dystrophy: A cross-sectional study.

ABSTRACT:

Objective

Herein, we describe the disease burden and age-related changes of congenital-onset myotonic dystrophy (CDM) in childhood.

Methods

Children with CDM and age-matched controls aged 0 to 13 years were enrolled. Participants were divided into cohorts based on the following age groups: 0-2, 3-6, and 7-13 years. Each cohort received age-appropriate evaluations including functional testing, oral facial strength testing, neuropsychological testing, quality-of-life measurements, and ECG. Independent-samples t test or Wilcoxon 2-sample test was used to compare the differences between children with CDM and controls. Probability values less than 0.05 are reported as significant.

Results

Forty-one participants with CDM and 29 healthy controls were enrolled. The 6-minute w

SUBMITTER: Johnson NE 

PROVIDER: S-EPMC4940062 | biostudies-literature | 2016 Jul

REPOSITORIES: biostudies-literature