Prospective observational study of FKRP-related limb-girdle muscular dystrophy R9: A GRASP consortium study.

ABSTRACT:

Objective

Limb-girdle muscular dystrophy R9 (LGMDR9, formerly known as LGMD2I), caused by variants in the fukutin-related protein (FKRP) gene leads to progressive muscle weakness of the shoulder and pelvic limb-girdles and loss of motor function over time. Clinical management and future trial design are improved by determining which standardized clinical outcome assessments (COA) of function are most appropriate to capture disease presentation and progression, informing endpoint selection and enrollment criteria. The purpose of our study was to evaluate the cross-sectional validity and reliability of clinical outcome assessments in patients with FKRP-related LGMDR9 participating in the Genetic Resolution and Assessments Solving Phenotypes in LGMD (GRASP) natural history study.

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SUBMITTER: Alfano LN 

PROVIDER: S-EPMC11822816 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature