Clinical Features, Expression Profiling, and Quality of Life of Infantile Onset Facioscapulohumeral Muscular Dystrophy

The purpose of this study is to establish a standardized functional testing protocol and measure longitudinal changes in muscle strength and function among patients with infantile onset FSHD, to describe the longitudinal changes in clinical phenotypes of infantile FSHD, to evaluate the long-term impact of physical impairment, secondary health conditions, activity limitations and disability caused by FSHD on health-related quality of life and disability, and to evaluate genetic modifiers and biomarkers of clinical phenotypes and disease progression in infantile FSHD.
For more information, see the study listing at the following link: https://clinicaltrials.gov/ct2/show/NCT01437345.