van der Linden MH, Marigold DS, Gabreëls FJM, Duysens J. Muscle reflexes and synergies triggered by an unexpected support surface height during walking. J Neurophysiol 97: 3639 -3650, 2007. First published March 28, 2007 doi:10.1152/jn.01272.2006. An important phase in the step cycle is foot contact. When the moment of foot contact differs from the one expected, a fast response is needed. Such a mismatch can be caused by hitting a support surface earlier or later than expected. To study this, experiments were performed with healthy young adults who walked on a platform that was unexpectedly at a lowered (5 cm) or at a level height. Glasses blocked the lower visual field. In the unexpectedly lowered trials, the absence of expected heel contact triggered responses in the ipsilateral anti-gravity muscles [ipsilateral medial gastrocnemius (MGi), ipsilateral rectus femoris (RFi)] and contralateral flexor muscles [contralateral tibialis anterior (TAc), contralaterial biceps femoris (BFc)] with latencies of 47-69 ms. After the delayed heel contact, enhanced activity was found in the MGi, RFi, and TAc muscles. This specific muscle synergy was presumably activated to arrest the forward propulsion of the body. In contrast, when the surface was unexpectedly at level height, the subjects expected to step down, and the leg briefly yielded. A muscle synergy was activated at 46 -81 ms that flexed the ipsilateral knee (TAi, BFi, RFi) and extended the contralateral one (MGc, BFc) to unload the perturbed leg and delay the contralateral swing phase. Both conditions triggered a fast functionally relevant muscle synergy because of a mismatch between the expected and actual sensory feedback at the moment of foot contact. The results are consistent with an internal model that compares the expected with the actual sensory feedback. The short latency of the response suggests a subcortical, possibly cerebellar pathway.

ObjectiveThe introduction of hematopoietic stem cell transplantation (HSCT) has significantly improved the life-span of Hurler patients (mucopolysaccharidosis type I-H, MPS I-H). Yet, the musculoskeletal manifestations seem largely unresponsive to HSCT. In order to facilitate evidence based management, the aim of the current study was to give a systematic overview of the orthopaedic complications and motor functioning of Hurler’s patients after HSCT.MethodsA systematic review was conducted of the medical literature published from January 1981 to June 2010. Two reviewers independently assessed all eligible citations, as identified from the Pubmed and Embase databases. A pre-developed data extraction form was used to systematically collect information on the prevalence of radiological and clinical signs, and on the orthopaedic treatments and outcomes.ResultsA total of 32 studies, including 399 patient reports were identified. The most frequent musculoskeletal abnormalities were odontoid hypoplasia (72%), thoracolumbar kyphosis (81%), genu valgum (70%), hip dysplasia (90%) and carpal tunnel syndrome (63%), which were often treated surgically during the first decade of life. The overall complication rate of surgical interventions was 13.5%. Motor functioning was further hampered due to reduced joint mobility, hand dexterity, motor development and longitudinal growth.ConclusionStem cell transplantation does not halt the progression of a large range of disabling musculoskeletal abnormalities in Hurler’s disease. Although prospective data on the quantification, progression and treatment of these deformities were very limited, early surgical intervention is often advocated. Prospective data collection will be mandatory to achieve better evidence on the effect of treatment strategies.

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Hurler syndrome (MPS-IH) is a rare autosomal recessive lysosomal storage disease. Besides a variety of other features, Hurler syndrome is characterized by a range of skeletal abnormalities known as dysostosis multiplex. Despite the successful effect of haematopoietic stem cell transplantation on the other features, dysostosis remains a disabling symptom of the disease. This study analyzed the status and development of the orthopaedic manifestations of 14 Dutch Hurler patients after stem cell transplantation.Data were obtained retrospectively by reviewing patients' charts, radiographs and MRIs. Existing methods to measure the deficiencies were modified to optimally address the dysostosis. These measurements were done by two of the authors independently. The odontoïd/body ratio, kyphotic angle, scoliotic angle and parameters for hip dysplasia and genu valgum were measured and plotted against age. The degree of progression was determined. The intraclass correlation coefficient (ICC) was calculated to determine the reliability of the measurements.All patients showed hypoplasia of the odontoïd, which significantly improved during growth. Kyphosis in the thoracolumbar area was present in 13 patients and proved to be progressive. Scoliosis was observed in eight patients. Hip dysplasia was present in all patients and showed no tendency of improvement. In all but one patient, knee valgus remained more than two standard deviations above normal.Dysostosis remains a major problem after haematopoietic stem cell transplantation in Hurler patients. Moreover, except for dens hypoplasia, it appears to be progressive and therefore surgical interventions may be necessary in the majority of these patients.

We describe the development of a simple patient-based score for young patients with hip problems which concentrates on activities that are difficult for someone with a hip problem and includes an activity rating scale that measures the highest level of physical activity reached during the past year. We compared the super simple hip score (SUSHI) with the more extensive hip osteoarthritis outcome score (HOOS) and evaluated the validity, sensitivity to change and floor and ceiling effects of the SUSHI score. We found that the SUSHI score is an adequate score to measure hip problems and that this score was preferred to the HOOS score by patients.