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A 63-Year-Old Man with Progressive Limb Weakness and Slurred Speech

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A Case-Based Guide to Neuromuscular Pathology

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Abstract

Kennedy’s disease, also known as spinobulbar muscular atrophy, is a rare X-linked recessive hereditary motor neuron disease. It is caused by an expansion of the CAG tandem repeat in the androgen receptor gene. The disease affects lower motor neurons in the brainstem and spinal cord that results in slowly progressive facial, bulbar, and limb weakness. Distal sensory neuropathy is also common. The diagnosis of Kennedy’s disease is made by genetic testing. However, a muscle biopsy is still done sometimes due to the lack of a high suspicion or awareness. As seen with other types of motor neuron diseases, muscle biopsy in Kennedy’s disease often shows prominent chronic active denervation changes and pseudomyopathic changes. Here, we present a case of Kennedy’s disease to illustrate its features.

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Authors and Affiliations

  1. Departments of Neurology and Pathology, Boston University Medical Center, Boston, MA, USA

    Lan Zhou

  2. Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA

    Susan C. Shin

Authors
  1. Lan Zhou
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  2. Susan C. Shin
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Correspondence to Lan Zhou .

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Editors and Affiliations

  1. Departments of Neurology and Pathology, Boston University Medical Center, Boston, MA, USA

    Lan Zhou

  2. Department of Pathology, Neuropathology Section, University of Texas Southwestern Medical Center, Dallas, TX, USA

    Dennis K. Burns

  3. Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, USA

    Chunyu Cai

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Zhou, L., Shin, S.C. (2020). A 63-Year-Old Man with Progressive Limb Weakness and Slurred Speech. In: Zhou, L., Burns, D., Cai, C. (eds) A Case-Based Guide to Neuromuscular Pathology. Springer, Cham. https://doi.org/10.1007/978-3-030-25682-1_22

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  • DOI: https://doi.org/10.1007/978-3-030-25682-1_22

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-25681-4

  • Online ISBN: 978-3-030-25682-1

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