This blog post explores the causes, symptoms, diagnosis, treatment, and prevention of facioscapulohumeral muscular dystrophy (FSHD).
Causes
Genetic mutations that cause FSHD affect muscle protein production, which causes muscle fibers, especially those on the face, shoulders, and upper arms, to gradually deteriorate. FSHD is inherited in an autosomal dominant pattern, which means that a person only needs one copy of the defective gene from either parent to develop the condition.
Symptoms
An individual with FSHD may experience the following symptoms during adolescence or early adulthood:
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Muscle weakness, particularly in the face (facio-), shoulders (scapulo-), and upper arms (humeral).
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Having difficulty smiling, closing the eyes completely, or making facial expressions due to facial muscle weakness.
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As a result of weak muscles that stabilize the shoulder blades, the shoulder blades appear prominent (scapular winging).
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Exercise or prolonged activity can cause muscle cramps or spasms.
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A weakness in the lower leg muscles causes difficulty lifting the front part of the foot (foot drop).
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Weakness that gradually progresses over time, affecting your mobility and daily activities.
Diagnosis
Diagnosing FSHD typically involves:
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Assessment of muscle strength, tone, and reflexes, as well as facial features and shoulder blade positioning.
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Blood samples are usually used for genetic testing to identify the specific genetic mutation associated with FSHD.
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An electromyography (EMG) tests the electrical activity of the muscles and identifies patterns of weakness and degeneration.
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Occasionally, a muscle biopsy may be performed to examine muscle tissue under a microscope and confirm a diagnosis.
Treatment
The treatment of FSHD focuses on managing symptoms and maximizing quality of life. It may include:
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In physical therapy, exercise programs are designed to improve muscle strength, flexibility, and range of motion, as well as maintain functional abilities.
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The use of mobility aids such as braces, orthotics, or walking aids to improve mobility and support weakened muscles.
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Pain, muscle spasms, fatigue, and associated conditions such as heart problems or respiratory problems can be managed with medicines.
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In some cases, surgical interventions may be considered to address complications such as joint contractures or scapular winging.
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FSHD patients and their families benefit from psychological support, occupational therapy, and social support services.
Prevention
However, individuals with a family history of FSHD may benefit from genetic counseling to understand their risk of passing the condition on to future generations and explore options for family planning.
As a result, facioscapulohumeral muscular dystrophy is a genetic disorder that causes progressive muscle weakness and atrophy, especially in the face and shoulders. In spite of the fact that there is no cure for FSHD, early diagnosis, supportive care, and management of symptoms can greatly improve quality of life and functional outcomes. A healthcare professional specializing in neuromuscular disorders should be consulted if you or someone you know is experiencing symptoms of FSHD.
