Facioscapulohumeral muscular dystrophy is often described as the third most common form of muscular dystrophy with a slow progression. It should be considered in patients with complaints of gradual weakness affecting face and shoulder girdle muscles. We present here, three male cases from Pakistan who presented with these features. All had raised levels of Serum Creatine Kinase. Electrodiagnostic evaluation revealed myopthic findings in biceps, triceps, deltoid, supraspinatus and infraspinatus muscles. Subsequent muscle tissue histopathology was consistent with a dystrophy favoring the diagnosis of Facioscapulohumeral muscular dystrophy. Genetic testing for the disease is currently not available in Pakistan. As there is no curative treatment, the disease is managed through supportive measures involving therapeutic exercises, activity modification and use of orthotics that may aid in improving function and mobility. Surgical scapular fixation may improve function but has to be weighed against limitation of scapular movement and surgical complications.
Key words: Facioscapulohumeral Muscular dystrophy, Nerve conduction studies, Electromyography, Pakistan
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