Camptocormia and drop head syndrome secondary to myotonic dystrophy type 1: a case series and literature review

Abstract

Camptocormia and drop head syndrome (DHS) is an abnormal flexion of the spine (kyphosis) caused by paraspinal muscle weakness. Camptocormia is used when the kyphosis is at the thoracolumbar levels and DHS is used when the kyphosis is in the cervical area. This manifestation can be seen in different populations including myotonic dystrophy type 1 (DM1). The purpose of this article is to present a case series of patients with DM1 developing camptocormia or DHS in addition to a literature review about pathophysiology, diagnosis, and treatment. The case series are 2 patients diagnosed with camptocormia and 1 patient diagnosed with DHS secondary to DM1 evaluated at a neuromuscular outpatient clinic. Physical examination showed flexible thoracolumbar kyphosis in 2 patients, and 1 patient presented with a flexible kyphotic cervical spine. Imaging studies showed atrophy of the paraspinal muscles (magnetic resonance imaging and computed tomography scan). Physical therapy was prescribed with poor results. The orthotic recommendation was given to patients with camptocormia with marked functional improvement. The DHS patient showed no improvement with an orthosis. In conclusion, camptocormia and DHS are possible long-term complications in patients with DM1. Clinically they present with flexible cervical and thoracic kyphosis due to atrophic changes with fatty infiltration at the paraspinal muscles. Physical therapy has poor results, and orthosis use has mixed results.