Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9.

ABSTRACT:

Objective

The Global FKRP Registry is a database for individuals with conditions caused by mutations in the Fukutin-Related Protein (FKRP) gene: limb girdle muscular dystrophy R9 (LGMDR9, formerly LGMD2I) and congenital muscular dystrophies MDC1C, Muscle-Eye-Brain Disease and Walker-Warburg Syndrome. The registry seeks to further understand the natural history and prevalence of FKRP-related conditions; aid the rapid identification of eligible patients for clinical studies; and provide a source of information to clinical and academic communities.

Methods

Registration is patient-initiated through a secure online portal. Data, reported by both patients and their clinicians, include: age of onset, presenting symptoms, family history, motor function and muscle strength, respirato

SUBMITTER: Murphy LB 

PROVIDER: S-EPMC7261761 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature