A single focus
Facio Therapies has been established with a single focus – to find a cure for FSHD. FSHD (in full: facioscapulohumeral dystrophy) is a muscle wasting disease that generally progresses from the face ('facio') to the shoulders ('scapulo') and the upper arms ('humeral'), and sometimes also to the legs. About 20% of people with FSHD end up in a wheelchair.
Living with FSHD
FSHD is a hereditary disease, devastating the lives of over 700,000 people and those close to them. The loss of muscle strength has a huge impact on daily life. Living with FSHD means living with pain, fatigue, and social isolation. Above all, the future becomes uncertain because the course of the disease is unpredictable.
Looking for a cure
There is no therapy for FSHD other than forms of temporary symptomatic relief. This means that as yet the progression of FSHD is unstoppable. A cure would stop the progression of FSHD. But what does it take to find a cure? First of all, an understanding of what goes wrong in affected muscle cells. Here is a brief summary of what is known.
The role of DUX4
FSHD is caused by genetic mutations that initiate the production of a protein called DUX4. DUX4 plays a normal role in early fetal development, but is highly toxic when produced in skeletal muscle tissue. In people without FSHD, the DUX4 gene is “locked”. In people with FSHD, the gene is “unlocked” resulting in the production of the toxic DUX4 protein.
Is a cure for FSHD feasible?
A cure for FSHD requires the targeted, complete and permanent repair of the underlying genetic defects. The genetics of FSHD is so complicated that technically, such repair is not possible yet. But that does not mean we have to resign to waiting until science gets there. We believe there is another way to overcome FSHD and stop its progression.