Clinicians in southern India, working with other international research teams, have compiled clinical, biological and genetic data from a very large cohort of adult patients previously diagnosed with GNE myopathy:
- 157 cases were included in this retrospective study,
- onset of symptoms averaged 26 years, with a delay in diagnosis of around six years,
- bilateral foot drop was the presenting symptom in almost half the cases,
- the quadricipital muscle, usually spared in GNE myopathy, was deficient in 3% of patients,
- a homozygous mutation of the GNE gene (p.Val727Met) was found in the vast majority of patients.
A cohort of this kind is exceptionally rich, and could be used for large-scale therapeutic trials.
