- is transmitted as an autosomal dominant condition;
- most patients show relatively slow progression of weakness involving primarily muscles of facial expression & proximal upper limbs;
- whistling and sucking thru straw may be impossible, & patients cannot fully bury their eyelashes when they close their eyes;
- although their arms become gradually weaker from adolescence on, patients can usually work into later life;
- in common form, facial weakness is noted in first decade, w/ main musculoskeletal problem being related to weakness of shoulder girdle with winging of scapula;
- weakness is due to weakness of muscles that fix scapula to thoracic wall (trapezius, levator scapulae, and rhomboids);
- muscles that abduct glenohumeral joint (deltoid, supraspinatus, infraspinatus, and subscapularis) remain strong;
- in absence of stabilization, there is winging of the scapula and limited abduction of the arm
Current Concepts Review. The Diagnosis and Orthopaedic Treatment of Inherited Muscular Diseases of Childhood.
Scapulothoracic arthrodesis for patients who have fascioscapulohumeral muscular dystrophy.
Scapulocostal stabilization for scapular winging in facioscapulohumeral muscular dystrophy.
Scapulothoracic arthrodesis in facioscapulohumeral muscular dystrophy. Review of seventeen procedures with three to twenty-one-year follow-up.
Simplified Technique for Scapulocostal Fusion in Facioscapulohumeral Dystrophy.
Thoracoscapular Fusion for Facioscapulohumeral Dystrophy.
Scapulothoracic arthrodesis in facioscapulohumeral muscular dystrophy.
Scapulothoracic Fusion for Facioscapulohumeral Muscular Dystrophy.
Reanimated ‘Junk’ DNA Is Found to Cause Disease