Fascioscapulohumeral Muscular Dystrophy

• Asymmetric facial and scapular muscles (scapular winging) and humeral (upper arm) atrophy: difficulty whistling, closing eyes, throwing ball
• Symptoms appear in adolescence
• Genetics
• Autosomal Dominant
• D4Z4 contraction on chromosome 4q35 (Majority of genetic cause)

• The disease is clinically evident in the second decade of life, although up to 30% of patients may be asymptomatic.
• The usual pattern of weakness is that of concomitant scapula fixator and facial weakness.
• Patients cannot whistle, sip through a straw or blow out their cheeks.
• Their eyes are slightly open when they sleep.
• There is a descending rostral caudal weakness, facial, shoulder girdle, peroneal and hip girdle.
• Patients have wide palpebral fissures, poor facial expression and a transverse smile.
• Neck flexor muscles are relatively spared compared to extensors.
• The shoulders are forward sloped and rounded with pectoral atrophy and axillary creases.
• The scapulae are winged and laterally displaced with preferential wasting of the lower trapezius muscles.
• The biceps and triceps are wasted out of proportion to the deltoids (“Popeye” appearance).
• There is preferential weakness of lower abdominal muscles causing upward deviation of the umbilicus with neck flexion (Beevor's sign).
• Foot dorsiflexion is involved with gastrocnemius sparing.
• Reflexes are depressed.
• Hearing loss and retinal telangiectasia are associated.
• Approximately 5% of patients have cardiac involvement with conduction defects.
• The abnormalities are primarily supraventricular tachyarrhythmias.

[Genetics Image Adapted from Images with permission from: Adapted from Mysid, based on http://ghr.nlm.nih.gov/chromosome=4 and http://www.skeletalmusclejournal.com/content/4/1/12]