Does the report suggest FSHD?

Hi,

Welcome to icliniq.com. I have gone through your query and the report (attachment removed to protect patient identity). The report says that this patient has the gene for FSHD (facioscapulohumeral muscular dystrophy). Since the patient also has a weakness of the shoulders, the diagnosis is confirmed.

Hi,

Welcome back to icliniq.com. Facioscapulohumeral muscular dystrophy (FSHD) typically has an onset in childhood or young adulthood. In most cases, facial weakness is the initial manifestation, appearing as an inability to smile, whistle or fully close the eyes. Usually, the patient seeks medical attention when they notice weakness of the shoulder girdles rather than the facial muscles. Loss of scapular stabilizer muscles makes arm elevation difficult. Biceps and triceps muscles may be severely affected, with relative sparing of the deltoid muscles. Weakness is invariably worse for wrist movement, and weakness of the muscles of the legs may lead to foot drop. The good news is that in most patients, the weakness remains restricted to facial, upper extremity, and distal lower extremity muscles. Characteristically, patients with FSHD do not have involvement of other organ systems, although labile hypertension is common. The bad news is that in 20% of patients, weakness involves the pelvic girdle muscles, resulting in severe functional impairment and possible wheelchair dependency. There is an increased incidence of nerve deafness. Coats’ disease, a disorder consisting of telangiectasia (dilated blood vessels visible on the skin), exudation, and retinal detachment, also occurs. No specific treatment is available. Ankle-foot orthoses are helpful for foot drop. Scapular stabilization procedures improve scapular winging but may not improve the function.