FSHD (Facioscapulohumeral Muscular Dystrophy): Symptoms, Causes, Treatment

What are the symptoms of facioscapulohumeral muscular dystrophy?

Facioscapulohumeral muscular dystrophy (FSHD) is a genetic muscle disorder characterized by muscle weakness and wasting, particularly in the face, shoulders, and upper arms. The symptoms of FSHD can vary widely from person to person, but common signs and symptoms include:

  1. Facial Weakness: Weakness of the facial muscles, which can lead to a “bland” or expressionless facial appearance, difficulty closing the eyes completely, and difficulty with whistling or blowing.
  2. Shoulder and Upper Arm Weakness: Weakness and wasting of the muscles around the shoulders and upper arms, which can lead to difficulty raising the arms, reaching overhead, and lifting objects.
  3. Scapular Winging: This is a condition where the shoulder blades (scapulae) stick out prominently from the back due to weakness of the muscles that stabilize them.
  4. Progressive Muscle Weakness: Muscle weakness tends to progress slowly over time, but the rate of progression can vary.
  5. Muscle Wasting: As the disease progresses, affected muscles may become smaller (atrophy), particularly in the face, shoulders, upper arms, and lower legs.
  6. Hearing Loss: Some people with FSHD may experience hearing loss, which can be due to the involvement of facial muscles responsible for ear function.
  7. Foot Drop: Weakness in the lower leg muscles can lead to difficulty lifting the front of the foot (foot drop), which can cause a dragging gait.
  8. Contractures: In some cases, muscle weakness and imbalance can lead to joint contractures, particularly in the ankles, knees, elbows, and fingers.

Symptoms of FSHD typically develop in late childhood to early adulthood, but the onset and severity can vary widely. It’s important to note that not all individuals with FSHD will experience all of these symptoms, and the progression of the disease can be unpredictable. If you or someone you know is experiencing symptoms suggestive of FSHD, it’s important to seek evaluation by a healthcare provider familiar with neuromuscular disorders for an accurate diagnosis and appropriate management.

What are the causes of facioscapulohumeral muscular dystrophy?

Facioscapulohumeral muscular dystrophy (FSHD) is caused by genetic changes that affect the function of certain muscles. The condition is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the faulty gene to develop the disorder. However, not everyone with the genetic change will develop FSHD, and the severity of the condition can vary even among family members who carry the same genetic change.

FSHD is most commonly linked to a genetic change in a region of chromosome 4 called the D4Z4 region. This genetic change leads to the inappropriate expression of a protein called DUX4 in muscle cells. The exact mechanism by which DUX4 causes muscle damage is not fully understood, but it is thought to interfere with normal muscle development and function.

In some cases, FSHD can also be caused by other genetic changes that affect the regulation of the DUX4 gene or other genes involved in muscle function. These cases are less common and are known as FSHD type 2.

It’s important to note that while FSHD is a genetic condition, not everyone with the genetic change will develop symptoms. The severity of the condition can vary widely, even among family members. Genetic counseling and testing can help individuals understand their risk of developing FSHD and make informed decisions about their health.

How is the diagnosis of facioscapulohumeral muscular dystrophy made?

The diagnosis of facioscapulohumeral muscular dystrophy (FSHD) is typically based on a combination of clinical evaluation, family history, and genetic testing. Here’s how FSHD is typically diagnosed:

  1. Clinical Evaluation: Your healthcare provider will start by taking a detailed medical history and performing a physical examination. They will look for signs and symptoms of FSHD, such as muscle weakness and wasting, particularly in the face, shoulders, and upper arms.
  2. Family History: FSHD is an inherited condition, so a family history of the disorder can be an important clue in making the diagnosis. However, not everyone with a family history of FSHD will develop the condition, and some cases may occur sporadically without a family history.
  3. Genetic Testing: Genetic testing is used to confirm the diagnosis of FSHD. The most common genetic test for FSHD looks for a genetic change in the D4Z4 region of chromosome 4. This test can determine if a person has the genetic change associated with FSHD and can help differentiate between FSHD type 1 and FSHD type 2.
  4. Muscle Biopsy: In some cases, a muscle biopsy may be performed to examine muscle tissue for changes characteristic of FSHD. However, muscle biopsy is less commonly used for diagnosis now that genetic testing is available.
  5. Electromyography (EMG): EMG may be used to assess the electrical activity of muscles. In FSHD, EMG may show changes characteristic of a muscle disorder.
  6. Imaging Studies: Imaging studies such as MRI may be used to assess muscle wasting and changes in muscle structure characteristic of FSHD.

Diagnosing FSHD can be complex, and it’s important to consult with a healthcare provider who is familiar with neuromuscular disorders for an accurate diagnosis. Genetic counseling may also be recommended for individuals with a family history of FSHD or those who are considering genetic testing.

What is the treatment for facioscapulohumeral muscular dystrophy?

There is currently no cure for facioscapulohumeral muscular dystrophy (FSHD), but treatment focuses on managing symptoms, improving quality of life, and maintaining mobility. Treatment options for FSHD may include:

  1. Physical Therapy: A physical therapist can develop an exercise program to help maintain muscle strength and flexibility. Range-of-motion exercises can also help prevent contractures (shortening of muscles).
  2. Occupational Therapy: An occupational therapist can help with adaptive equipment and techniques to make daily tasks easier.
  3. Speech Therapy: If facial muscles are affected, speech therapy can help improve speech and swallowing.
  4. Bracing: Splints or braces may be used to support weakened muscles and improve function.
  5. Pain Management: Over-the-counter or prescription medications may be used to manage pain associated with FSHD.
  6. Surgery: In some cases, surgery may be recommended to improve mobility or correct muscle imbalance. For example, surgery may be used to release tight muscles or tendons.
  7. Assistive Devices: Devices such as canes, walkers, or wheelchairs may be recommended to help with mobility.
  8. Genetic Counseling: Genetic counseling may be offered to individuals with FSHD and their families to discuss the genetic implications of the condition and family planning options.

It’s important for individuals with FSHD to work closely with a healthcare team that specializes in neuromuscular disorders to develop a comprehensive treatment plan. Regular monitoring and adjustments to the treatment plan may be necessary as the condition progresses.

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