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Muscle Nerve. 2013 Jan;47(1):124-7. doi: 10.1002/mus.23497. Epub 2012 Nov 21.

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

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1
The Center for Gene Therapy, Nationwide Children's Hospital, 700 Children's Drive, Columbus, Ohio 43205, USA.

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.

PMID:
23169483
DOI:
10.1002/mus.23497
[Indexed for MEDLINE]
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