Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies.

ABSTRACT: Objective: To identify the rate of change of clinical outcome measures in children with 2 types of congenital muscular dystrophy (CMD), COL6-related dystrophies (COL6-RDs) and LAMA2-related dystrophies (LAMA2-RDs).

Methods: Over the course of 4 years, 47 individuals (23 with COL6-RD and 24 with LAMA2-RD) 4 to 22 years of age were evaluated. Assessments included the Motor Function Measure 32 (MFM32), myometry (knee flexors and extensors, elbow flexors and extensors), goniometry (knee and elbow extension), pulmonary function tests, and quality-of-life measures. Separate linear mixed-effects models were fitted for each outcome measurement, with subject-specific random intercepts.

Results: Total MFM32 scores for COL6-RDs and LAMA2-RDs decreased at a rate of 4

SUBMITTER: Jain MS 

PROVIDER: S-EPMC6885579 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature