Pediatria pre prax 2/2013

Scapular winging

We present the case of a boy who, up to the age of 16, was an active football and floorball player. In the recent 2 years, he experienced increasing muscle weakness and knee pain. Examinations revealed osteoid osteoma of the distal femur and proximal tibia bilaterally and a lesion of the right medial meniscus. The neurological exam revealed no pathology and EMG revealed the myopathic picture. At our first examination, small, cranially displaced scapulae looking like wings and exhibiting atypical movements were apparent (see movie). Genetic analysis confirmed facioscapulohumeral muscle dystrophy (FSHMD). Facial and particularly humeroscapular m,uscles are affected in this condition. Bulbar, extraocular and respiratory muscles are spared. The genetic defect is a deletion in the subtelomeric region of the 4-th chromosome (4q35) resulting in 1-10 instead of the 11-150 D4Z4 tandem repeats. Inheritance is autosomal dominant and thus carries a 50% risk for the offspring of affected subjects.

Keywords: facioscapulohumeral muscular dystrophy, 4q35 deletion, D4Z4 tandem repeats.