Premium
Camptocormia as a late presentation in a manifesting carrier of duchenne muscular dystrophy
Author(s) -
Findlay Andrew R.,
Lewis Sarah,
Sahenk Zarife,
Flanigan Kevin M.
Publication year - 2013
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.23497
Subject(s) - medicine , duchenne muscular dystrophy , muscular dystrophy , supine position , muscle biopsy , myopathy , differential diagnosis , pediatrics , biopsy , physical medicine and rehabilitation , pathology
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