Facioscapulohumeral Dystrophy (FSHD) ; Definition, Causes, Symptoms, Diagnosis, Treatment скачать в хорошем качестве

Facioscapulohumeral Dystrophy (FSHD) ; Definition, Causes, Symptoms, Diagnosis, Treatment

Facioscapulohumeral Muscular Dystrophy (FSHD) is a type of muscular dystrophy that primarily affects the muscles of the face, shoulders, and upper arms. Here are some key points about FSHD: Key Features of Facioscapulohumeral Muscular Dystrophy: Muscle Weakness: Weakness and atrophy (wasting) of the facial muscles, leading to difficulties with facial expressions such as smiling, whistling, and closing the eyes. Scapular Winging: The shoulder blades (scapulae) stick out and move up toward the neck when moving the arms, giving the appearance of wings. Upper Arm Weakness: Weakness in the biceps and triceps, making it difficult to lift the arms above the shoulders. Progression: The disease typically progresses slowly and can affect other muscles over time, including those in the chest, abdomen, and lower legs. Genetic Cause: FSHD is caused by genetic mutations that lead to inappropriate expression of the DUX4 gene on chromosome 4. There are two main types: FSHD1 and FSHD2. Inheritance: FSHD can be inherited from either parent or occur due to a new mutation. Symptoms: Facial weakness, particularly around the eyes and mouth Difficulty lifting arms above the shoulders Muscle weakness in the chest and abdomen Asymmetric muscle involvement (one side may be more affected than the other) Diagnosis and Management: Diagnosis: Genetic testing and muscle biopsy can help diagnose FSHD. Management: There is no cure for FSHD, but treatment focuses on managing symptoms and improving quality of life. This may include physical therapy, bracing, and medications to manage pain and inflammation #FacioscapulohumeralDystrophy