ABSTRACT

Facioscapulohumeral muscular dystrophy (FSHD) is a progressive muscular dystrophy which starts with shoulder and face muscles involvement and rarely spreads to pelvic muscles. It has autosomal dominant inheritance pattern, serum CK levels are normal or mildly high, and EMG is myopathic.

We present the 43 year old male patient with pain, numbness and weakness in cervical area and both arms for 1 year. His mother has similar symptoms as well. His cervical spinal nerve EMG results were found normal.

EMG results were found normal. Our patient had the defect of closing eyelids or pressing them based on faced muscles involvement just like regular FSHD cases. Because of the atrophy of lower face muscles, lips seemed to be fuller. On the other hand, there was a no whistling or blowing defects related to orbicularis oris muscle and face involvement. We presented this study as this muscle disease represents itself with weakness and numbness in muscle is seen rarely in literature and our patient did not have one of its components (facial).

Keywords: Facioscapulohumeral muscular dystrophy, neuromuscular disorder, muscle imaging, muscular dystrophy, facioscapulohumeral/diagnosis