Camptocormia as a late presentation in a manifesting carrier of duchenne muscular dystrophy. Issue 1 (21st November 2012)

• Record Type: Journal Article
• Authors: Findlay, Andrew R.; Lewis, Sarah; Sahenk, Zarife; Flanigan, Kevin M.
• Is Part Of: Muscle & nerve. Volume 47:Issue 1(2013:Jan.)
• Page Start: 124
• Page End: 127
• Publication Date: 2012-11-21
• Subjects: Neuromuscular diseases -- Periodicals; Muscles -- Periodicals; Nerves -- Periodicals; 616.74
• DOI: 10.1002/mus.23497
• Languages: English
• ISSNs: 0148-639X

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <sec id="abs1-1" sec-type="section"> <title>Introduction:</title> <p>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.</p> </sec> <sec id="abs1-2" sec-type="section"> <title>Methods:</title> <p>We describe a woman who presented with camptocormia in her eighth decade.</p> </sec> <sec id="abs1-3" sec-type="section"> <title>Results:</title> <p>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 <italic>DMD</italic> confirmed that she was a heterozygous carrier of a mutation.</p> </sec> <sec id="abs1-4" sec-type="section"> <title>Conclusions:</title> <p>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</p> </sec> </abstract>