Facioscapulohumeral muscular dystrophy (FSHD syndrome)
If you have been diagnosed with facioscapulohumeral muscular dystrophy (FSHD), you probably have many questions. In this article you will find almost all the important information about the disease, its symptoms and treatment options. What is FSHD muscular dystrophy? Facioscapulohumeral (FSHD) muscular dystrophy is an inherited muscle disease that primarily affects the muscles of your face, shoulder and upper arm. The disease […]
If you have been diagnosed with facioscapulohumeral muscular dystrophy (FSHD), you probably have many questions. In this article you will find almost all the important information about the disease, its symptoms and treatment options.
What is FSHD muscular dystrophy?
Facioscapulohumeral (FSHD) muscular dystrophy is an inherited muscle disease that primarily affects the muscles of your face, shoulder and upper arm.
The name of the disease comes from these areas: “facio” refers to the face, “scapulo” to the shoulder blade, and “humeral” to the upper arm.
This genetic disorder gradually weakens and wastes your muscles, which over time can affect your day-to-day activities.
Genetic background
The condition is caused by a reduction in the number of repeats of a DNA segment called D4Z4 on chromosome 4. In healthy people this segment repeats 11–100 times, but in FSHD it is reduced to fewer than 10 repeats.
This genetic change leads to the production of certain harmful proteins in your muscles that cause gradual weakness and wasting.
The inheritance is autosomal dominant, which means if you inherited the faulty gene from one parent, you are likely to develop the disease.
If you have FSHD, you have a 50% chance of passing it on to your child.
Symptoms of facioscapulohumeral muscular dystrophy
The disease usually begins in adolescence or early adulthood, but this can vary widely between individuals. In some cases the first signs can be observed in childhood, while in others symptoms may not appear until their 40s or 50s. Even within the same family there can be significant differences in severity and age of onset.
Involvement of the facial muscles is often the first noticeable sign. Smiling or whistling may become more difficult, and your eyes may not close as easily as before. Your lips may appear thinner and your face may look less expressive. These changes develop slowly and gradually, so family members or close friends often notice them before you do.
Problems with the shoulder and upper arm are also characteristic. It becomes increasingly difficult to raise your arm above your head. Tasks like brushing your hair or taking an object from a high shelf can become more challenging.
The so-called “winged scapula” is also typical, when your shoulder blade noticeably protrudes from your back.
As the disease progresses, the trunk and leg muscles may also be affected. Weakening of the back muscles can change your posture, and longer walks or climbing stairs can become increasingly tiring.
Your gait may become unstable and you may experience trips and falls.
Important! I have listed almost every possible symptom, but not everyone will experience them all, not in the same order, and not with the same severity — every case can be different.
FSHD most often presents asymmetrically, meaning it can be stronger on one side of your body than the other.
Diagnostic process
Diagnosis involves a multi-step process.
A detailed physical examination may reveal characteristic movements of your face, shoulders and arms.
An accurate diagnosis requires genetic testing from a blood sample to determine the number of D4Z4 repeats.
A muscle biopsy (analysis of a tissue sample taken from a muscle) may also be performed to rule out other muscle diseases.
Electromyography (EMG) measures the electrical activity of your muscles and helps define the affected areas and the severity of the disease.
Treatment options and therapeutic approaches
Although there is currently no cure for FSHD, there are several treatment options available to improve your quality of life and slow disease progression.
Physical therapy plays a key role in treatment. A physiotherapist will design a personalized exercise program for you. Repeatedly performing these exercises helps preserve muscle strength, improves balance and coordination, prevents joint stiffness and reduces pain.
Electrical muscle stimulation (EMS) can be a complementary treatment method that enhances the effectiveness of exercise. During the treatment, weak electrical impulses stimulate your muscles, improving blood circulation in the affected areas and, by “working” the muscles, slowing the process of muscle wasting. EMS treatment parameters must be precisely set according to the condition of the muscles. Excessive frequencies and current intensity can overload the muscles.
Breathing exercises can also be an important part of your treatment program, especially since the disease can affect the respiratory muscles. Learning certain breathing techniques improves respiratory function and endurance and can help prevent breathing problems.
Lifestyle advice
Regular, moderate exercise is important for you, but you must follow some rules. Avoid overexertion. Choose low-intensity activities (e.g., swimming, walking). Allow sufficient rest after exercise for recovery.
Proper nutrition supports the health of your muscles. Consume enough protein and vitamins. Eat plenty of vegetables and fruits. Maintain an appropriate body weight.
Rest is important because muscles regenerate most effectively during rest (sleep). Therefore, get enough sleep (7–9 hours per night). Take regular breaks during the day. Avoid excessive physical strain; perform low to moderate intensity activities. Learn relaxation and meditation techniques.
Coping with the disease can also be emotionally taxing. Talk to your family and friends about your problems. Join a support group formed by patients with similar conditions. If needed, seek help from a psychologist. Share your experiences with fellow patients — you may help them.
Outlook
Research into FSHD is ongoing. Several promising therapeutic approaches are under development:
- Gene therapy solutions
- New pharmacological treatments
- Stem cell–based therapies
- Innovative rehabilitation methods
