Camptocormia as a late presentation in a manifesting carrier of duchenne muscular dystrophy

Authors

  • Andrew R. Findlay BS,

    1. The Center for Gene Therapy, Nationwide Children's Hospital, 700 Children's Drive, Columbus, Ohio 43205, USA
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  • Sarah Lewis HT, ASCP,

    1. The Center for Gene Therapy, Nationwide Children's Hospital, 700 Children's Drive, Columbus, Ohio 43205, USA
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  • Zarife Sahenk MD, PhD,

    1. The Center for Gene Therapy, Nationwide Children's Hospital, 700 Children's Drive, Columbus, Ohio 43205, USA
    2. Departments of Pediatrics and Neurology, The Ohio State University, Columbus, Ohio, USA
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  • Kevin M. Flanigan MD

    Corresponding author
    1. The Center for Gene Therapy, Nationwide Children's Hospital, 700 Children's Drive, Columbus, Ohio 43205, USA
    2. Departments of Pediatrics and Neurology, The Ohio State University, Columbus, Ohio, USA
    • The Center for Gene Therapy, Nationwide Children's Hospital, The Ohio State University, 700 Children's Drive, Columbus, Ohio 43205, USA

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Abstract

Introduction:

Camptocormia, or bent spine syndrome, is an abnormal posture consisting of forward flexion of the spine that disappears when a patient is supine. It is associated with a wide variety of myopathic disorders that affect paraspinal muscles, including inflammatory and inherited myopathies.

Methods:

We describe a woman who presented with camptocormia in her eighth decade.

Results:

Skeletal muscle biopsy showed mild nonspecific changes, but her family history was significant for a son who died of Duchenne muscular dystrophy (DMD). Genetic analysis of DMD confirmed that she was a heterozygous carrier of a mutation.

Conclusions:

In the absence of any alternate explanation, we interpret her symptoms to be a manifestation of her DMD carrier state. To our knowledge, this represents the first reported example of camptocormia as the presenting symptom in a carrier and suggests that a manifesting carrier state should be considered in the differential diagnosis for women with unexplained camptocormia. Muscle Nerve, 2013

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