FSHD is one of the most complex forms of Muscular Dystrophy, robbing adults and children of the ability to walk, talk, smile, blink or even eat.

What is FSHD?

Facioscapulohumeral muscular dystrophy (FSHD) is a disease of skeletal muscle, causing progressive weakening and loss of muscle in both adults and children. It can rob people of their ability to walk, talk, smile, blink or even eat.

It is a genetic disease which parents can pass down to their children, and often runs in families.

There is currently no effective treatment or cure. However, there are therapies and support available which can help people maintain a good quality of life.

Understanding FSHD

How do people get FSHD?

Most often, people inherit FSHD from one of their parents, though FSHD can appear in families without any history of the disease.

Who can be affected by FSHD?

FSHD is a disease that can affect anyone and can affect multiple members of the same family.

Signs and symptoms of FSHD

Though FSHD affects everyone differently, there are some common symptoms people experience when they are first affected by the disease.

Diagnosis and genetic testing

Getting a formal diagnosis of FSHD is important to make sure you can get the therapy and support you need.

Understanding the genetics - Types of FSHD

There are two main types of FSHD, defined by the different genes that are affected, though the symptoms are the same.

Early-onset FSHD (Infantile FSHD)

FSHD mostly first appears in adolescence or early adulthood, but the disease can affect children too, and in different ways to adults.

How are people affected by FSHD?

In the long-term, FSHD can affect both the muscles and other parts of the body, and impacts people’s lives in different ways.

Support available for people with FSHD

There are several government agencies and charities that offer information and practical support for Australians with FSHD.

Managing Your Health

Although there is no cure for FSHD, there are therapies and support which can help you maintain the good quality of life you deserve.

Cure FSHD

Cure FSHD is the patient-led Australian registry for people living with FSHD. Through the Cure FSHD app, you can collate your genetic information, patient questionnaires and other FSHD data to receive your ‘clinical trial passport’. This passport validates that you are ‘trial ready’, meaning that when a clinical trial is set to run in your area, you will be notified and offered the opportunity to take part.

Joining this patient registry also gives you the ability to store, manage, and access your own health information, keeping it readily accessible for you to use in discussion with your healthcare team.

To join the registry, download the Cure FSHD app today.