Early-onset facioscapulohumeral muscular dystrophy - Significance of pelvic extensors in sagittal spinal imbalance

Department of Orthopaedic Surgery, Asan Medical Center, College of Medicine, University of Ulsan, Seoul, Korea.
Journal of pediatric orthopaedics. Part B / European Paediatric Orthopaedic Society, Pediatric Orthopaedic Society of North America (Impact Factor: 0.59). 08/2009; 18(6):325-9. DOI: 10.1097/BPB.0b013e32832efc21
Source: PubMed


Although facioscapulohumeral muscular dystrophy (FSHD) is the third most common inherited myopathy, cases of infantile or early-childhood onset have rarely been reported. The purpose of this study was to describe a case of early-onset FSHD with lumbar hyperlordosis, which shows the significance of the dynamic component of sagittal spinal imbalance. An 11-year-old girl presented with progressive gait disturbance and lumbar hyperlordosis. The motor power of her pelvic extensor muscles was grade 3. Pelvic tilt and hip flexion were markedly increased as determined by gait analysis. The most important factor in the development of hyperlordosis is the weakness of the pelvic extensor muscles, and the results of gait analysis exquisitely explain the pathophysiology. The patient stands with her spine hyperextended to maintain upright posture by a compensatory mechanism of relatively strong back extensor muscles. Corrective surgery for lumbar hyperlordosis was not considered because it could have eliminated the compensatory lumbar hyperextension, thus making the spine of the patient stoop forward through her hip joint during walking by the weakness of her pelvic extensor muscles. This FSHD case is an impressive example of a patient showing the concept that weak pelvic extensor muscles cannot keep the spine upright and balanced.

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    • "For each patient, the number of muscles with an average FI score ≥ 2 was determined. A lumbar hyperlordosis is often seen in patients with FSHD (Lee et al., 2009; Tawil & Van Der Maarel, 2006a) and may affect the kinematic response of the body to a perturbation. Therefore, weightbearing total spine conventional radiographs were made in both the anterior–posterior and lateral direction to assess the spinal curvature. "
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