Literature DB >> 18592136

Rare association of antisynthetase syndrome and Kennedy's disease.

Nora Szabo1, Szilveszter Lukacs, Wiranthi Gunasekera, Katalin Danko.   

Abstract

Antisynthetase syndrome is a type of Idiopathic Inflammatory Myopathy (IIM) associated with anti-Jo1 antibody. Kennedy's disease or X-linked spinal and bulbar muscular atrophy (SBMA) is a rare neuromuscular disease. We describe the case report of a 53-year-old man who presented with proximal muscle weakness and a history of bilateral hand tremor. Initial physical examination demonstrated "mechanic's hands", Raynaud's phenomenon, having elevated creatine kinase and lactate dehydrogenase levels and anti-Jo1 antibody positivity. His muscle biopsy demonstrated inflammatory infiltrate characteristic of IIM. Considering these findings, we reached the diagnosis of antisynthetase syndrome and commenced immunosuppressive therapy. On follow-up examination, he had developed dysphagia, and his tremor had worsened. His electroneurogram result was characteristic of Kennedy's disease, and the genetic test result showed an allele with 44 CAG repeat expansion in the androgen receptor gene of the X chromosome. This confirmed that in addition to antisynthetase syndrome, he also had Kennedy's disease. This patient now receives immunology and neurology follow-up. His symptoms have improved with low dose corticosteroids, propranolol for tremor, vitamin B supplementation, and physiotherapy. This article presents a rare case report of a patient with concurrent antisynthetase syndrome and Kennedy's disease, both of which lead to elevated creatine kinase levels and muscle weakness, thus, underpinning the importance of careful follow-up of patients with IIM and maintaining an open mind to other diagnoses when faced with refractory and/or new symptoms.

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Year:  2008        PMID: 18592136     DOI: 10.1007/s10067-008-0946-5

Source DB:  PubMed          Journal:  Clin Rheumatol        ISSN: 0770-3198            Impact factor:   2.980


  13 in total

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Journal:  Neurology       Date:  1986-12       Impact factor: 9.910

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8.  A new approach to the classification of idiopathic inflammatory myopathy: myositis-specific autoantibodies define useful homogeneous patient groups.

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Journal:  Medicine (Baltimore)       Date:  1991-11       Impact factor: 1.889

9.  Elevated creatine kinase and transaminases in asymptomatic SBMA.

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Journal:  Amyotroph Lateral Scler       Date:  2007-02

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Authors:  Antal Szabó; Ferenc Mechler
Journal:  Ideggyogy Sz       Date:  2002-09-20       Impact factor: 0.427

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  1 in total

Review 1.  Myositis-related interstitial lung disease and antisynthetase syndrome.

Authors:  Joshua Solomon; Jeffrey J Swigris; Kevin K Brown
Journal:  J Bras Pneumol       Date:  2011 Jan-Feb       Impact factor: 2.624

  1 in total

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