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A 52-Year-Old Man with Proximal Limb Weakness and Hand Stiffness

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Abstract

Myotonic dystrophy is the most common muscular dystrophy seen in adults. It is an autosomal dominant disease. It is a unique muscular dystrophy characterized by multisystem involvement, clinical and EMG myotonia, RNA toxicity as the disease-causing mechanism, and lack of dystrophic changes on muscle biopsy. It has two types: myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2). Here we present a patient with DM2, whose initial clinical presentation is mild and non-specific. The DM2 diagnosis was suspected based on the muscle biopsy findings and confirmed by the gene test.

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Author information

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
  2. Susan C. Shin

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Correspondence toLan Zhou.

Editor information

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 52-Year-Old Man with Proximal Limb Weakness and Hand Stiffness. 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_12

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Chapter
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