Upper Thoracic Myelopathy Caused by Delayed Neck Extensor Weakness in Myotonic Dystrophy

Myotonic dystrophy is the most common autosomal dominant myopathy in adults. Our patient, a 41 year-old female suffering from myotonic muscular dystrophy, developed upper thoracic myelopathy due to hypertrophy of the ligamentum flavum and the posterior longitudinal ligament. She had a typical hatchet face and ptosis with "head hanging forward" appearance caused by neck weakness. Motor weakness, sensory changes and severe pain below T4 level, along with urinary incontinence began 3 months ago. Genetic and electrodiagnostic studies revealed myotonic dystrophy type 1. Magnetic resonance imaging of the spine showed loss of cervical lordosis and spinal cord compression due to hypertrophied ligamentum flavum and posterior longitudinal ligament at T1 to T3 level. We concluded that her upper thoracic myelopathy was likely related to the thickness of the ligamentum flavum and posterior longitudinal ligament due to repetitive mechanical stress on her neck caused by neck muscle weakness with myotonic dystrophy.

Screening for the Coexistence of Congenital Muscular Torticollis and Developmental Dysplasia of Hip

OBJECTIVE: To investigate the coexistence rate and related factors of developmental dysplasia of the hip (DDH) and congenital muscular torticollis (CMT), and to determine whether ultrasonography (US) gives good value for screening of DDH in CMT. METHOD: We prospectively examined 121 infants (73 males and 48 females) diagnosed with CMT to determine the incidence of DDH by US. We also assessed the relationship between neck US findings and DDH occurrence, and investigated the clinical features of CMT related to DDH. RESULTS: 18 patients (14.9%) were diagnosed as having DDH by US. However, most DDH was subclinical and spontaneously resolved. Only 2 patients (1.7%) needed to be treated with a harness. The positive predictive value of clinical examinations for DDH was 52.6% and patients treated by harness were all clinically positive. DDH was more common in the left side (13 left, 4 right, 1 both), but 6 out of 18 DDH (33.3%) cases presented on the contralateral side of CMT. Sex difference was not observed. Breech presentation and oligohydramnios were not related to DDH occurrence. Neck US findings did not correlate with DDH occurrence. CONCLUSION: The coexistence rate of CMT and DDH was concluded to be 14.9%. If only DDH cases that required treatment were included, the coexistence rate of these two disorders would be lowered to 1.7%. All of these patients showed positive findings in clinical examination. Therefore, hip US should not be recommended routinely for patients with CMT.