GNE myopathy is a very rare genetic condition that causes muscles in the arms and legs to become increasingly weak.
It is also known by several other names including hereditary inclusion body myopathy (HIBM), quadriceps-sparing myopathy (QSM), distal myopathy with rimmed vacuoles (DMRV), Nonaka myopathy or hereditary inclusion body myopathy type 2.
The first symptoms of GNE myopathy normally occur in young adults (usually in their 20s or 30s). It is also possible to have an earlier or later onset of the condition, but that is rare. Severity and rate of progression are highly variable, even within families where more than one person is affected.
You can find out more about the condition in our factsheet and alert card which are below. You can order a hard copy of these resources by emailing firstname.lastname@example.org.
You can now sign up or update your existing records
The US based charity, Neuromuscular Disease Foundation
Ultragenyx stops Ace-ER development
Information day on 21 March 2016 in Oxford
24 January 2020
26 January 2020
7 February 2020