What happens when you have FSHD?
Facioscapulohumeral muscular dystrophy (FSHD) is a disease in which muscles gradually weaken.
Muscle symptoms
In most cases, symptoms begin in the muscles of the face, shoulders, and arms.
This is why it is called the “facial, shoulder, and upper arm type.”
You may find it difficult to raise your shoulders, bend your arms, keep your eyes open while sleeping, or smile, and others may notice that your facial expressions are stiff. (But your smiles are still beautiful!)
Some people realize they have dyspraxia after experiencing difficulties such as being unable to whistle, suck through a straw, stand at attention in school, or perform sports or play musical instruments.
The shoulder blades protrude like wings. This is because the muscles supporting the shoulder blades have weakened.
The muscles in the fingertips and grip strength may also weaken.
The muscles around the chest may also weaken.
As a result, the rib cage may become sunken, leading to a condition known as pectus excavatum.
It is generally believed that pectus excavatum does not typically affect the heart.
Additionally, the muscles around the chest are important for breathing, so some individuals may experience reduced lung capacity.
If nighttime breathing volume decreases, it can affect sleep, so some people use breathing assistance devices at night or on a regular basis.
For this reason, regular respiratory function tests are recommended.
Additionally, the muscles in the abdomen and legs may also be affected.
This can manifest as an inability to perform abdominal exercises, difficulty climbing stairs or steps, inability to run, a distinctive running style, or a posture where the lower back is thrust forward.
You may find it difficult to stand up from low chairs or the ground, or to use the toilet or bathtub.
In addition, the muscles that lift the toes weaken, causing the ankles to sag and increasing the risk of tripping.
Approximately one in five people with this disease will require a wheelchair.
Wheelchairs and walkers help prevent falls and injuries, and many patients use them in combination with normal walking.
Progression of symptoms
Both men and women can develop this condition.
Symptoms do not progress rapidly, but gradually worsen over time.
Muscle weakness often develops differently on the left and right sides of the body.
For example, it is common for muscle strength to begin to decline in only the upper arm of the right hand or for walking to become difficult in only the left leg.
Even areas that initially showed no symptoms may develop symptoms several years later.
The progression of symptoms varies among family members.
The location of symptoms varies greatly from person to person, making it difficult to predict.
There are no reports indicating that mild exercise without muscle pain or discomfort worsens this condition, and some studies suggest that aerobic exercise is beneficial for both physical and mental health.
Patients who enjoy swimming, for example, can engage in such activities as long as they do so within their limits.
Additionally, there are no reports indicating a clear impact on life expectancy, and this is considered a condition that can be managed over the long term.
Symptoms other than muscle symptoms
FSHD is a muscle disease, but it may also be accompanied by symptoms other than muscle symptoms.
About half of patients suffer from pain.
The causes of pain vary and are not clear, but many patients have chronic pain in the shoulder area.
There are cases where pain can be relieved with painkillers that are applied to the skin, taken orally, or with traditional Chinese medicine.
Feeling easily fatigued is also a characteristic symptom.
You may experience hearing loss in high frequencies.
This can be detected during a routine hearing test.
In rare cases, bleeding in the capillaries at the back of the eye may cause partial loss of vision.
This condition is also known as Coats' disease and can be detected during an eye exam.
Irregular heart rhythms may occur, but their impact on heart function is unclear.
This can be detected through an electrocardiogram (ECG) test.
It is also very rare for symptoms such as epilepsy to occur.
It is important to note that these are not symptoms that will necessarily occur, and even if they do, there are treatment options available.
Regular check-ups can help detect these conditions early on.
Early-onset and pediatric cases
In some patients, symptoms may become clearly apparent by the age of 10.
In these cases, the progression of symptoms is faster compared to other cases, and the condition is more likely to become severe.
Additionally, the likelihood of symptoms affecting areas other than muscles is higher.
Although these cases account for a small proportion of all FSHD cases, the underlying mechanism of the disease is essentially the same.
For these early-onset cases, there is an urgent need for enhanced care, further research to improve understanding, and efforts to raise awareness.
Possibility of misdiagnosis
There are many different diseases that affect the muscles, each with different causes.
In the case of FSHD, symptoms may resemble those of other conditions such as limb-girdle muscular dystrophy, leading to misdiagnosis as FSHD.
In most cases, whether the condition is truly FSHD can be determined by extracting DNA from blood and conducting specialized genetic testing.
If the condition is another disease, different treatment options may be effective.
If you have not yet received a definitive diagnosis through genetic testing, please consult your primary care physician about the possibility of genetic testing.
Mental health issues
In most cases, this disease does not directly affect mental functioning.
However, due to social relationships with family, school, work, friends, and other people, it may be difficult to gain understanding about the disease or disability, which can lead to mental distress, loneliness, depression, and other problems.
A lack of facial expression can also lead to misunderstandings by those around you.
In addition, a lack of understanding and acceptance of one's own condition can have a negative impact on mental health.
In such cases, cognitive behavioral therapy and other options may be available to help improve the condition.
You can consult your primary care physician or a counseling service (especially genetic counseling).
In addition, simply sharing concerns with others who have the same condition or listening to the experiences of other FSHD patients can lead to an improvement in one's condition.
A message from FSHD Japan
As you can see, one of the characteristics of FSHD is that there are significant individual differences even among people with the same diagnosis.
Some people have mild symptoms and are able to live their daily lives independently, while others have severe disabilities and require caregiver services.
While there are things we can understand and things we cannot, there are also many ways we can support one another because we share the same condition.
As a patient support group, we strive to engage with many individuals affected by FSHD and their families, working to address the challenges faced by FSHD patients at all levels.
What is important is that many individuals, despite the difficulties they face after receiving a diagnosis, are able to move forward by understanding the reasons behind their condition and their family's situation, and by making adjustments and looking toward the future.
If you are facing challenges, there may be someone else with the same condition who has found a solution.
We encourage you to utilize FSHD Japan as a place to share such insights and support.