FAQs

What is
FSHD?

FSHD (Facioscapulohumeral Muscular Dystrophy) is a relentlessly progressive muscle-wasting disease that usually initially affects the face, shoulders (scapula), and upper arms. Over time, it can impact muscles throughout the body, including the legs and trunk.  Over 50% of those affected have symptoms prior to the age of 18 and 24% will lose the ability to walk or stand.

Is there a treatment or cure for FSHD?

Currently, there is no cure for FSHD. However, several potential treatments are being researched, including gene therapies and anti-DUX4 drugs. Physical therapy, bracing, mobility aids, and lifestyle adjustments can help manage symptoms.

Can I participate in a clinical trial?

Generally, if you are between the ages of 18-65, can walk unaided, are mildly affected, and can undergo MRI and muscle biopsy, then you can participate. 

What is the “I Exist Too” Campaign?

The campaign has two primary objectives: 1. To encourage biopharmaceutical companies to enroll a more diverse group of individuals affected by FSHD in their clinical trials, or to establish a comprehensive Expanded Access program for those who are unable to participate in the trials. 2. To request that the FDA issue broader labeling for the indications approved for FSHD treatment.

What is expanded access?

Expanded access, also known as compassionate use, refers to a regulatory mechanism that allows patients with serious or life-threatening conditions to gain access to investigational drugs, biologics, or medical devices that have not yet been approved by regulatory authorities.

What resources are available for people with FSHD?

There are several organizations providing support, research updates, and advocacy for individuals with FSHD, including:

• FSHD Society (www.fshdsociety.org)

• Solve FSHD (www.solvefshd.com)

• Friends of FSH Research (www.fshfriends.org)

• FSHD Cure Initiative (debbie@fshdcure.org)

• Muscular Dystrophy Association (MDA) (www.mda.org)