Facioscapulohumeral muscular dystrophy (FSHD) is a common muscular dystrophy characterized by an asymmetric descending progression starting in the face and shoulder-girdle muscles. Here, we present a Korean FSHD patient with eight D4Z4 repeat units and FAT1 mutation. A 59-year-old woman visited our neurologic clinic due to progressive shoulder girdle muscles weakness and proximal leg weakness for 3 years. She presented winged scapula and asymmetric weakness of facial and proximal muscles. The serum creatine kinase level was 140 IU/l.

Read More...

Leave a comment.

Your email address will not be published. Required fields are marked*

Andoird App
Loading...