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- Yv-Sen Mu, Jia-Yi Yao, and Fang Li.
- Graduate School of Hebei North University, Zhangjiakou, Hebei, China.
- Medicine (Baltimore). 2024 Sep 27; 103 (39): e39169e39169.
RationaleSpinal bulbar muscular atrophy (SBMA) is a rare X-linked recessive motor neuron degenerative disease. Due to the lack of specificity in its early clinical manifestations, SBMA is easily misdiagnosed. Herein, we present a case in which SBMA was misdiagnosed as polymyositis.Patient ConcernsA 58-year-old patient began to develop symptoms of limb weakness 20 years ago and was admitted to the Second Hospital of Hebei Medical University 10 years ago without special treatment. Two years ago, the above symptoms worsened and he was admitted to Peking Union Medical College Hospital. The patient was misdiagnosed as polymyositis. According to the gene mutation characteristics of SBMA, the patient was diagnosed with SBMA.DiagnosesThe result of the Kennedy gene test was positive, and the patient was diagnosed with Kennedy disease.InterventionsAfter the diagnosis of SBMA, the patient was given symptomatic treatment to alleviate the condition.OutcomesConservative treatment after discharge was requested. It is recommended that patients avoid bucking to prevent complications.LessonsThis is a case of milder SBMA being misdiagnosed as polymyositis. For patients with weak limbs, the possibility of SBMA should be considered.Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.
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