SOLVE FSHD – Frequently Asked Questions:

What affects the severity of FSHD? Why are some individuals more severely affected than others?

FSHD symptoms vary between individuals as does the age of onset and speed of disease progression. The number of DUX4 repeats within the D4Z4 region on chromosome 4, the polyadenylation status of the chromosome at the distal end, and/or the methylation state of the DUX4 region may contribute to disease severity. As we work toward finding a cure for FSHD, we will better understand the mechanisms underlying the pathology.

How can I get involved with SOLVE FSHD? Are you hiring or looking for volunteers?

Thank you for your interest. SOLVE FSHD is not currently hiring or seeking volunteers.

Are you currently accepting proposals to help find a cure for FSHD?

Globally, we are working closely with academic FSHD experts, world leading neuromuscular clinicians, and neuromuscular bio-pharmaceutical companies to accelerate the pace of finding a cure for FSHD by 2027.

Can I make a donation to help find a cure for FSHD?

Yes, you can make donations to your local FSHD organizations. In Canada, please contact FSHD Canada. In the USA, please contact FSHD Society. SOLVE FSHD cannot accept donations.

Where can I find out more about clinical trials?

FSHD Society maintains a list of the most recent research and clinical trial developments here.

Is a genetic test needed to diagnose FSHD?

Traditionally FSHD is diagnosed by a trained neuromuscular clinician (MD) and does not require genetic testing. In more recent years, we are now capable of confirming a clinical diagnosis with genetic testing. For more information please see: https://www.fshdsociety.org/diagnosis/

Who should consider genetic testing for FSHD?

Testing is a personal preference and confirming a genetic disorder may impact your life in unforeseen ways. It is critical to consult a genetic counsellor prior to genetic testing so that you fully understand the implications that a positive diagnosis may have on your personal life.

Does everyone with the FSHD “mutation” develop symptoms?

No, not everyone is symptomatic. Most affected individuals develop symptoms, both young and old, however some people can live their entire life without obvious symptoms. Asymptomatic individuals carry the genetic mutation and may have offspring with FSHD symptoms.

Are there any recommended treatments for FSHD?

Today, there is no treatment to stop, slow down, or reverse FSHD.

What can someone with FSHD expect as they age?

Progressive muscle deterioration and the loss of ability to function independently in daily life.

I have FSHD, are there any clinical sites you refer Canadian FSHD patients to?

In Canada, individuals affected by FSHD can join the registry and seek further patient information from Muscular Dystrophy Canada, https://muscle.ca/