Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy.

ABSTRACT:

Background

GNE myopathy is a rare, autosomal recessive, muscle disease caused by mutations in GNE and is characterized by rimmed vacuoles on muscle biopsy and progressive distal to proximal muscle weakness.

Objective

Investigate the clinical presentation and progression of GNE myopathy.

Methods

The GNE Myopathy Disease Monitoring Program was an international, prospective, observational study in subjects with GNE myopathy. Muscle strength was assessed with hand-held dynamometry (HHD), with upper extremity (UE) and lower extremity (LE) composite scores reflecting upper and lower extremity muscle groups, respectively. The GNE myopathy-Functional Activity Scale (GNEM-FAS) was used to further assess impairment in mobility, upper extremity function, and self-care.

Result

SUBMITTER: Lochmuller H 

PROVIDER: S-EPMC8075380 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature