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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    ABSTRACT: Background Although it is known that muscle weakness is a major cause of postural instability and leads to an increased incidence of falls in patients with neuromuscular disease, the relative contribution of lower extremity and trunk muscle weakness to postural instability has not been studied well. Methods We determined the relationship between muscle fatty infiltration and sagittal-plane balance in ten patients with facioscapulohumeral muscular dystrophy. Sagittal-plane platform translations were imposed in forward and backward direction on patients with facioscapulohumeral muscular dystrophy and healthy controls. Stepping thresholds were determined and kinematic responses and centre-of-mass displacements were assessed using 3 dimensional motion analysis. In the patients, magnetic resonance imaging was used to determine the amount of fatty infiltration of trunk and lower extremity muscles. Findings Stepping thresholds in both directions were decreased in patients compared to controls. In patients, significant correlations were found for fatty infiltration of ventral muscles with backward stepping threshold and for fatty infiltration of dorsal muscles with forward stepping threshold. Fatty infiltration of the rectus abdominis and the back extensors explained the largest part of the variance in backward and forward stepping threshold, respectively. Centre-of-mass displacements were dependent on intensity and direction of perturbation. Kinematic analysis revealed predominant ankle strategies, except in patients with lumbar hyperlordosis. Interpretation These findings indicate that trunk muscle involvement is most critical for loss of sagittal-plane postural balance in patients with facioscapulohumeral muscular dystrophy. This insight may help to develop rehabilitation strategies to prevent these patients from falling.
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    ABSTRACT: Recently it has been postulated that there is an atypical facioscapulohumeral muscular dystrophy (FSHD) phenotype with isolated axial myopathy. Involvement of paraspinal and limb muscles was evaluated in six patients with molecularly proven FSHD and a predominant bent spine phenotype. Consistent with the camptocormia phenotype, the most severely affected muscles in all six patients were the thoracic and lumbar spinal tract together with hamstrings. MRI disclosed severe axial muscle degeneration but mostly subclinical involvement of limb muscles. The involvement of hip extensor muscles in FSHD might considerably contribute to the clinical phenotype of camptocormia due to axial muscle involvement.
    Journal of Neurology 12/2010; 258(5):866-73. DOI:10.1007/s00415-010-5858-z · 3.38 Impact Factor
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    ABSTRACT: Orthopaedic abnormalities are frequently recognised in patients with myopathy but are hardly systematically reviewed with regard to type of myopathy, type of orthopaedic problem, and orthopaedic management. This review aims to summarize recent findings and current knowledge about orthopaedic abnormalities in these patients, their frequency, and possible therapeutic interventions. A MEDLINE search for the combination of specific terms was carried out and appropriate articles were reviewed for the type of myopathy, types of orthopaedic abnormalities, frequency of orthopaedic abnormalities, and possible therapeutic interventions. Orthopaedic abnormalities in myopathies can be most simply classified according to the anatomical location into those of: the spine, including dropped head, camptocormia, scoliosis, hyperlordosis, hyperkyphosis, or rigid spine; the thorax, including pectus excavatum (cobbler's chest), anterior/posterior flattening, or pectus carinatum (pigeon's chest); the limb girdles, including scapular winging and pelvic deformities; and the extremities, including contractures, hyperlaxity of joints, and hand or foot deformities. These orthopaedic abnormalities can be most frequently found in arthrogryposis, muscular dystrophies, congenital myopathies, myofibrillar myopathies, and myotonic dystrophies. Occasionally, they also occur in metabolic myopathies or other types of myopathy. Most of the orthopaedic abnormalities are sufficiently accessible to conservative or surgical orthopaedic treatment. Orthopaedic abnormalities have major implications in the management and outcome of myopathy patients; they should be closely monitored and treated on time.
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