Abstract
Infantile FSHD is uncommon. We aim to describe the clinical features and secondary conditions in early onset FSHD. This study was conducted at participating Cooperative International Neuromuscular Research Group (CINRG) sites. The diagnosis was based on onset of symptoms involving the facial or shoulder girdle muscles and contraction of the D4Z4 repeat array ( r = −0.80), Vignos scale ( r = −0.67), and FSHD clinical severity scale ( r = −0.72 for facial, −0.64 for shoulder, and −0.60 for pelvic muscle weakness). Infantile FSHD causes severe weakness and early loss of independent ambulation. Smaller EcoR1 fragment size was associated with great disease severity. Additional longitudinal studies will help determine the rate of decline in motor function over time.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
