FSHD affects everyone differently. Some may be very severely affected, perhaps even requiring support for eating and breathing. Others may barely notice any weakness at all. Even when FSHD affects more than one family member, the severity of the symptoms can vary greatly from person to person within a family. Symptoms typically start to appear in the early teenage years, with the loss of muscles in the face (facio), shoulders (scapula), upper arms (humerus), legs or core. This pattern of muscle weakness often causes difficulties for people to walk, talk, blink, smile, swallow or eat. FSHD can affect all aspects of daily life, limiting personal independence and mobility.
Although the progression of FSHD varies from person to person, it is usually relatively slow, with most noticeable muscle weakness appearing by the age of 20 in males and by the age of 30 in females.
Right now, it is very difficult to say conclusively how FSHD will affect someone based on a genetic test. While people with fewer D4Z4 repeats tend to have more severe illness, this is not true for everyone. As diagnostic tests become better, we should be able to remove some of the uncertainty in this condition
Up to 70% of people living with FSHD report pain and inflammation. As different muscles begin to weaken due to the genetic fault, others need to work harder to maintain function. This can cause significant imbalances in the muscles, pulling on joints, creating misalignments and sometimes causing pain. People with FSHD may experience cramping and muscle spasms which can also be very painful. In addition, many people with FSHD report joint inflammation as an issue, which causes pain.
Find out more about options for managing pain in FSHD in our ‘Managing Your Health’ page.
Fatigue is one of the most common symptoms people with FSHD report. It is probably caused by the increased energy needed to perform daily tasks as muscles weaken. Fatigue may be caused by other factors though, and should be investigated if it is very severe.
This is often the first sign of FSHD. The muscles that tend to be the most affected are the ones around the mouth and eyes. People with FSHD may find it hard to smile or perform tasks that require puckering of the mouth, such as blowing up a balloon or whistling.
Another common early symptom is people noticing weakness around the shoulder blades. The weakening of the muscles that hold the shoulder blades in place means these bones move around and stick out. This is often referred to as ‘winging’, as the shoulder blades stick out and resemble ‘wings’. The weakness results in people finding it hard to raise their arms over their heads, or throw a ball.
Hip weakness doesn’t affect everyone with FSHD. When it does occur, it can cause problems with getting up out of a chair or climbing stairs. Hip weakness can seriously limit the ability to walk and can cause chronic pain.
Foot drop is common in FSHD, but not everyone experiences it. As the muscles weaken in the lower leg it becomes harder to hold the foot up while walking. This can lead to tripping, and problems walking on uneven floors and stairs.
Foot drop can be managed using an ankle-foot orthosis, a device that is worn on the lower leg which holds the toe up and supports a more normal gait. Sometimes a knee-ankle-foot orthosis is recommended, which also supports the knee to prevent hyper-extension of the joint, as well as lifting the foot when walking.
FSHD causes progressive muscle weakness, which can lead to joints being frozen in one position, known as a contracture.
Spinal misalignment can occur, most commonly as lordosis – where the spine curves excessively making the stomach stick out.
FSHD is a form of muscular dystrophy, and so can affect any system which depends upon the function of skeletal muscle. There are several complications that are linked to FSHD, though you may not experience any of these.
FSHD does not cause learning difficulties or any other cognitive impairment. However, it is important that schools and universities provide adequate adjustments to curriculum and assessment, to ensure that physical difficulties caused by muscle weakness, or communication challenges due to FSHD, are appropriately supported.
FSHD does not affect sexual function.
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