Facioscapulohumeral Dystrophy: Signs, Causes, And How To Treat

Facioscapulohumeral dystrophy, also known as FSHD, is a genetic muscle disorder that affects muscle strength and tone. It is caused by a mutation in the genetic code, leading to the weakening of specific muscles in the face, shoulders, and upper arms. This can result in difficulties with tasks involving these muscle groups. Understanding the genetic component of FSHD can help individuals and families make informed decisions about their health. If you suspect you or a loved one may have FSHD, it's important to consult with a healthcare provider for proper evaluation and management.

What Are the Symptoms of Facioscapulohumeral Dystrophy?

Facioscapulohumeral dystrophy symptoms may include weakness in facial muscles, difficulty raising arms, shoulder blade winging, and asymmetrical muscle weakness. Patients may experience slurred speech, hearing loss, and foot drop. Fatigue and joint pain are common. Symptoms usually begin in the teenage years and progress slowly over time. Physical therapy and assistive devices can help manage symptoms.

Weakness and shrinking of muscles in the face, shoulders, and upper arms can lead to difficulty with smiling, raising arms, and lifting objects.
Shoulder blade winging, where the shoulder blades protrude outward and appear to be sticking out from the back, is a common symptom of facioscapulohumeral dystrophy.
Fatigue and tiredness, especially after using the shoulder and arm muscles, are often experienced by individuals with facioscapulohumeral dystrophy.
Speech difficulties may arise due to weakened facial muscles, affecting the ability to enunciate clearly and causing slurred speech.
Irregular or asymmetric facial expressions, such as a lopsided smile or difficulty closing the eyes fully, can be noticeable in individuals with facioscapulohumeral dystrophy due to weakness in the facial muscles.

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Causes of Facioscapulohumeral Dystrophy

This results in muscle weakness and degeneration, primarily affecting the face, shoulders, and upper arms. The exact mechanism of how the DUX4 gene causes muscle damage is still being studied, but it is believed to interfere with muscle cell function and regeneration.

Facioscapulohumeral dystrophy can be caused by a genetic mutation on chromosome 4 that affects the production of a protein involved in muscle function.
In some cases, facioscapulohumeral dystrophy may be inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is needed to develop the condition.
Environmental factors, such as viral infections or hormonal changes, have also been suggested as potential triggers for the onset of facioscapulohumeral dystrophy.
Rarely, facioscapulohumeral dystrophy can occur spontaneously without any family history of the condition, known as a de novo mutation.
Research has shown that the severity of facioscapulohumeral dystrophy can vary widely among individuals, even within the same family, due to factors like the size of the genetic mutation and potential modifying genes.

Types Of Facioscapulohumeral Dystrophy

Facioscapulohumeral dystrophy can be classified into four types:

Classic FSHD: This is the most common type of facioscapulohumeral dystrophy, characterized by weakness in the face, shoulders, and upper arms, often leading to difficulty raising the arms overhead.
Infantile FSHD: Typically present in infancy or early childhood, this form of the condition is more severe and progresses rapidly, affecting not only the facial and upper body muscles but also causing developmental delays.
Late-onset FSHD: Onset of symptoms in late adulthood distinguishes this type, with individuals experiencing a gradual weakening of the facial and shoulder muscles over time, sometimes leading to mobility issues in the later stages.
FSHD with hearing loss: Some individuals with FSHD may experience hearing loss, which can be sensorineural in nature and is linked to the progression of the disease.

Risk Factors

The risk factors for facioscapulohumeral dystrophy include a family history of the condition, as it is usually inherited in an autosomal dominant pattern. Other factors that may increase the risk include genetic mutations on chromosome 4, which is linked to the development of the disorder. While the exact cause of these mutations is not fully understood, they play a significant role in the development of FSHD.

Family history of facioscapulohumeral dystrophy increases the risk of inheriting the condition.
Genetic mutations in the DUX4 gene are a significant risk factor for developing facioscapulohumeral dystrophy.
Advancing age can contribute to the onset and progression of facioscapulohumeral dystrophy.
Certain environmental factors, such as exposure to toxins or viruses, may play a role in triggering facioscapulohumeral dystrophy in susceptible individuals.
Gender may influence the risk of facioscapulohumeral dystrophy, as some studies suggest a slightly higher prevalence in males compared to females.

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Diagnosis of Facioscapulohumeral Dystrophy

Facioscapulohumeral dystrophy is diagnosed through a combination of physical exams, genetic testing, and imaging studies. Your doctor will assess muscle weakness and loss, particularly in the face, shoulders, and upper arms. A blood test can identify the genetic mutation linked to the condition. Imaging tests like MRI or CT scans may also be used to evaluate muscle changes. Early diagnosis is key for managing symptoms and planning treatment. Facioscapulohumeral dystrophy (FSHD) can be diagnosed through various methods, including:

Genetic testing: A blood test can identify the genetic mutation associated with FSHD, such as the D4Z4 deletion on chromosome 4.
Muscle biopsy: A sample of muscle tissue can be examined under a microscope to look for characteristic changes seen in FSHD, such as muscle fiber degeneration and regeneration.
Electromyography (EMG): This test measures the electrical activity of muscles and can help identify muscle weakness and damage, which are common in FSHD.
MRI imaging: Magnetic resonance imaging can show muscle wasting and fatty infiltration in affected muscles, providing valuable information for diagnosis and assessing the severity of facioscapulohumeral dystrophy (FSHD).

Treatment for Facioscapulohumeral Dystrophy

Treatment for facioscapulohumeral dystrophy focuses on managing symptoms and improving quality of life. Physical therapy, occupational therapy, and assistive devices can help maintain mobility and independence. Regular exercise and stretching are important to prevent muscle weakness. Genetic counseling may be recommended to understand the condition better. In some cases, surgery or medications can be considered to manage complications. Consulting with a healthcare team is essential for personalized care.

Physical therapy is a crucial treatment option for facioscapulohumeral dystrophy, aimed at maintaining muscle strength, mobility, and preventing contractures.
Speech therapy can be beneficial for individuals with facioscapulohumeral dystrophy to address difficulties with speech and swallowing that may arise due to muscle weakness in the face and throat.
Assistive devices such as braces, orthotics, and mobility aids can help individuals with facioscapulohumeral dystrophy maintain independence and improve quality of life by providing support and assistance with daily activities.
Regular monitoring and management by a multidisciplinary team of healthcare professionals, including neurologists, physical therapists, and genetic counselors, can help optimize care for individuals with facioscapulohumeral dystrophy by addressing the progression of symptoms, managing complications, and providing emotional support.

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Frequently Asked Questions

How do I recognize the signs of facioscapulohumeral dystrophy?

Facial weakness, difficulty raising arms, winged shoulder blades, foot drop are signs of facioscapulohumeral dystrophy.

What lifestyle changes should I make to manage facioscapulohumeral dystrophy effectively?

Physical therapy, gentle exercises, maintaining a healthy weight, and using mobility aids can help manage symptoms of facioscapulohumeral dystrophy.

How can facioscapulohumeral dystrophy affect the body in the long term?

Facioscapulohumeral dystrophy can lead to progressive muscle weakness, particularly in the face, shoulders, and upper arms, affecting mobility and daily activities.