4/27/2004 Case 3: Dysferlin deficiency, mimicking polymyositis


Clinical History:

A 24 year old woman had muscle pain and weakness two months prior to biopsy. Her serum creatine kinase (CK) level was said to be about 8,000 units at that time. She was reportedly given a single injection of methylprednisone (Depo-MedrolĀ®); no information was provided about either where the injection was given or whether the patient experienced any improvement in her condition. When seen one month later, on examination, she was found to have weakness, with difficulty walking. Her serum CK at that time was 3,730 units, and the serum had detectable myoglobin. No information was available about whether she received any further therapy. A muscle biopsy was performed one month later.

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