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Facioscapulohumeral Muscular Dystrophy

Facioscapulohumeral muscular dystrophy, also known as Landouzy-Dejerine Syndrome, is a disorder of skeletal muscles of the upper body, mainly the face, the scapular region and the muscles over and attaching to the humerus. It is an inherited autosomal dominant disorder which becomes clinically apparent in the teen years. Facioscapulohumeral muscular dystrophy is characterized by a progressively increasing and spreading weakness of the skeletal muscles, leading to eventual disability and sometimes necessitating ventilatory support for breathing in later stages.

Symptoms of Facioscapulohumeral Muscular Dystrophy

While Facioscapulohumeral muscular dystrophy is being considered as the most commonly occurring muscular disorder, the symptoms are not established because of the variable presentation. The most frequently seen symptoms of Facioscapulohumeral muscular dystrophy are those of progressive muscle weakness. There is decreased control over facial muscles, which is seen as drooping of the eyelids, inability to purse the lips properly or whistle, drooping of the corner of the mouth (giving a perpetually upset expression), mumbled or garbled speech because of inability to approximate the lips. The facial features mimic upper motor neuron lesions but their bilateral occurrence points towards a muscular origin of the weakness. Simultaneously in Facioscapulohumeral muscular dystrophy, there is also weakness of the shoulder muscles, difficulty in raising the arm, rotating the arm, and there may be a visible slump in the shoulder level. The other significant feature of Facioscapulohumeral muscular dystrophy is the occurrence of unequal weakness in the biceps, triceps, and deltoids, which may even involve the lower arm muscles, affecting function of the brachioradialis, flexor Carpi radialis and ulnaris. Along with these symptoms, there may be some amount of hearing loss, arrhythmias, foot drop, and lumbar lordosis (abnormal curvature of the spine) due to weakening of the abdominal muscles. Sometimes, the lower limbs may also be affected in Facioscapulohumeral muscular dystrophy.

Diagnosis of Facioscapulohumeral Muscular Dystrophy

Clinical tests for Facioscapulohumeral muscular dystrophy are still inconclusive, as diagnosis can only be made on the basis of multiple clinical features and a positive family history. However, some tests like Serum Creatine Kinase and Serum Lactate Dehydrogenase, if elevated, point to increased destruction of muscle fibers. Similarly Electromyograms for muscle activity, and Nerve conduction velocity testing aids diagnosis, as does muscle biopsy.

Treatment of Facioscapulohumeral Muscular Dystrophy

There is no treatment for Facioscapulohumeral muscular dystrophy. However, symptoms can be controlled with medical and physiotherapy. Drugs like Albuterol and Salbutamol are used, and surgery may be done to fix winging of the scapula. Speech therapy and walking aids help in further eliminating disability. The life span is not lessened in Facioscapulohumeral muscular dystrophy, and overall disability, once under control, is minor.


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