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Open Access Case Report

Kennedy disease misdiagnosed as polymyositis: a case report

Grigor M Harutunian1, Said R Beydoun1 and Richard A Rison2*

Author Affiliations

1 University of Southern California, Keck School of Medicine, Los Angeles County Medical Center, 1520 San Pablo Street Suite 3000, Los Angeles, CA 90033, USA

2 Medical Director PIH Health Stroke Program, University of Southern California Keck School of Medicine, Los Angeles County Medical Center, 12401 Washington Blvd. Whittier, California 90602, USA

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BMC Research Notes 2013, 6:389  doi:10.1186/1756-0500-6-389

Published: 28 September 2013

Abstract

Background

Polymyositis is an immune-mediated myopathy with clinical features of proximal muscle weakness. Dysphagia and neck flexor weakness can develop along with respiratory muscle weakness as the disease progresses. Kennedy disease or X-linked spinobulbar muscular atrophy is a rare X-linked recessive disorder with clinical features of slowly progressive atrophy and weakness of limb and bulbar muscles. These two disorders may have overlapping clinical manifestations.

Case presentation

We present the case of a 52-year-old Filipino man with chronic weakness involving his proximal muscle groups who carried the diagnosis of polymyositis and was refractory to multiple immunomodulatory therapies. Further neurologic examination and history taking along with selective serologic and electrodiagnostic studies instead confirmed the diagnosis of Kennedy disease.

Conclusions

Distinction between polymyositis and Kennedy disease may be difficult given the potential overlapping clinical manifestations. However, with careful neurological history taking, examination, and selective serologic plus electrodiagnostic investigations the correct diagnosis may be made, thus sparing the patient ineffective therapy. One must always be sure of the diagnosis of polymyositis before it’s classified as refractory.