Fascioscapulohumeral dystrophy (FSHD) is a inherited muscular condition with a gradual progression in weakness and loss of function over years. Currently there is no proven treatment for FSHD. The slow progression of disease is a challenge for the assessment of therapies in clinical trials. This could be overcome by identifying a proxy measure of disease severity that improves more rapidly with treatment.
We aim to use muscle excitability recordings to study patients with FSHD and determine whether this could be used as a proxy marker of disease severity and therefore also treatment response.
As such we are looking for patients with FSHD as well as healthy control subjects for our study. The procedure involves the insertion of two small needles into the trapezius, which is a large muscle in the shoulder. The needles then allow for the recording of muscle electrical properties in response to small electrical currents. There is minimal discomfort associated with the procedure.
You may be eligible to participate in this study if you:
If you are interested in participating or would like to learn more about the project please email mitchell.lycett@health.nsw.gov.au
Ethics approval number 1111-493M