Best practice guidelines for management of spinal disorders in skeletal dysplasia

White, Klane K.; Bober, Michael B.; Cho, Tae Joon; Goldberg, Michael J.; Hoover‐Fong, Julie; Irving, Melita; Kamps, Shawn E.; Mackenzie, William G.; Raggio, Cathleen; Spencer, Samantha A.; Bompadre, Viviana; Savarirayan, Ravi

doi:10.1186/s13023-020-01415-7

Cited by 17 publications

(9 citation statements)

References 55 publications

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“…Currently, surgery is the only curative treatment option for progressive symptomatic spinal stenosis in achondroplasia [ 4 , 57 ]. However, there is no general agreement on the optimal timing for surgical intervention, although some studies have suggested a more favorable outcome if an early surgical intervention is performed after onset of symptoms [ 11 , 12 ].…”

Section: Discussionmentioning

confidence: 99%

Fat infiltration in the thigh muscles is associated with symptomatic spinal stenosis and reduced physical functioning in adults with achondroplasia

Fredwall

Linge

Vries

et al. 2023

Orphanet J Rare Dis

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Background Symptomatic spinal stenosis is a prevalent complication in adults with achondroplasia. Increased muscle fat infiltration (MFI) and reduced thigh muscle volumes have also been reported, but the pathophysiology is poorly understood. We explored whether the increased MFI and reduced thigh muscle volumes were associated with the presence of symptomatic spinal stenosis and physical functioning. Methods MFI and thigh muscle volumes were assessed by MRI in 40 adults with achondroplasia, and compared to 80 average-statured controls, matched for BMI, gender, and age. In achondroplasia participants, the six-minute walk-test (6MWT), the 30-s sit-to-stand test (30sSTS), and a questionnaire (the IPAQ) assessed physical functioning. Results Symptomatic spinal stenosis was present in 25 of the participants (the stenosis group), while 15 did not have stenosis (the non-stenosis group). In the stenosis group, 84% (21/25) had undergone at least one spinal decompression surgery. The stenosis group had significantly higher MFI than the non-stenosis group, with an age-, gender and BMI-adjusted difference in total MFI of 3.3 percentage points (pp) (95% confidence interval [CI] 0.04 to 6.3 pp; p = 0.03). Compared to matched controls, the mean age-adjusted difference was 3.3 pp (95% CI 1.7 to 4.9 pp; p < 0.01). The non-stenosis group had MFI similar to controls (age-adjusted difference − 0.9 pp, 95% CI − 3.4 to 1.8 pp; p = 0.51). MFI was strongly correlated with the 6MWT (r = − 0.81, − 0.83, and − 0.86; all p-values < 0.01), and moderately correlated with the 30sSTS (r = − 0.56, − 0.57, and − 0.59; all p-values < 0.01). There were no significant differences in muscle volumes or physical activity level between the stenosis group and the non-stenosis group. Conclusion Increased MFI in the thigh muscles was associated with the presence of symptomatic spinal stenosis, reduced functional walking capacity, and reduced lower limb muscle strength. The causality between spinal stenosis, accumulation of thigh MFI, and surgical outcomes need further study. We have demonstrated that MRI might serve as an objective muscle biomarker in future achondroplasia studies, in addition to functional outcome measures. The method could potentially aid in optimizing the timing of spinal decompression surgery and in planning of post-surgery rehabilitation.

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Section: Discussionmentioning

confidence: 99%

Fat infiltration in the thigh muscles is associated with symptomatic spinal stenosis and reduced physical functioning in adults with achondroplasia

Fredwall

Linge

Vries

et al. 2023

Orphanet J Rare Dis

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“…8,9 Patients with MPS IV also have characteristic vertebral body beaking from the inferior half of the vertebral body (Figure 6D). 36 Because a missed or delayed MPS diagnosis may delay medical treatment, White et al 37 recommended screening for MPS when a patient with an unknown skeletal dysplasia has evidence of vertebral body beaking—this includes testing for leukocyte esterase activity and urinary glycosaminoglycans.…”

Section: Spinal Manifestations Of Skeletal Dysplasiamentioning

confidence: 99%

Spinal Manifestations of Skeletal Dysplasia: A Practical Guide for Clinical Diagnosis

Tetreault,

Andras,

Tolo

2024

J Am Acad Orthop Surg

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Skeletal dysplasias are a group of genetic conditions defined by atypical bone or cartilage growth and development. Skeletal abnormalities include short stature, limb deformity, joint contracture, and spinal deformity. Over 90% of disorders have a known genetic mutation that can definitively determine the diagnosis. As patients may present with a primary spinal concern, a careful clinical and radiographic evaluation can allow the physician to develop a working diagnosis to guide additional evaluation. Spinal manifestations include scoliosis and kyphoscoliosis, cervical instability, cervical kyphosis, thoracolumbar kyphosis, spinal stenosis, and atypical vertebral body morphology. An understanding of the affected conditions, prevalence, and natural history of these radiographic findings aids the orthopaedic surgeon in establishing a diagnosis and guides appropriate orthopaedic care.

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“…[2][3][4][5] Surgical treatment of spinal deformity is associated with increased risk of dural lesions and neurological injury in patients with skeletal dysplasia. 6 EOS is classified as idiopathic, congenital, neuromuscular, or syndromic according to the underlying cause. 7 Patients whose EOS is related to skeletal dysplasias are in the syndromic group.…”

Section: Introductionmentioning

confidence: 99%

Outcomes after completing growth-friendly surgical treatment for early-onset scoliosis in patients with skeletal dysplasia

Saarinen,

Sponseller,

Thompson

et al. 2024

Bone Joint J

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AimsThe aim of this study was to compare outcomes after growth-friendly treatment for early-onset scoliosis (EOS) between patients with skeletal dysplasias versus those with other syndromes.MethodsWe retrospectively identified 20 patients with skeletal dysplasias and 292 with other syndromes (control group) who had completed surgical growth-friendly EOS treatment between 1 January 2000 and 31 December 2018. We compared radiological parameters, complications, and health-related quality of life (HRQoL) at mean follow-up of 8.6 years (SD 3.3) in the dysplasia group and 6.6 years (SD 2.6) in the control group.ResultsMean major curve correction per patient did not differ significantly between the dysplasia group (43%) and the control group (28%; p = 0.087). Mean annual spinal height increase was less in the dysplasia group (9.3 mm (SD 5.1) than in the control group (16 mm (SD 9.2); p < 0.001). Mean annual spinal growth adjusted to patient preoperative standing height during the distraction period was 11% in the dysplasia group and 14% in the control group (p = 0.070). The complication rate was 1.6 times higher (95% confidence interval (CI) 1.3 to 2.0) in the dysplasia group. The following complications were more frequent in the dysplasia group: neurological injury (rate ratio (RR) 5.1 (95% CI 2.3 to 11)), deep surgical site infection (RR 2.2 (95% CI 1.2 to 4.1)), implant-related complications (RR 2.0 (95% CI 1.5 to 2.7)), and unplanned revision (RR 1.8 (95% CI 1.3 to 2.5)). Final fusion did not provide additional spinal height compared with watchful waiting (p = 0.054). There were no significant differences in HRQoL scores between the groups.ConclusionAfter growth-friendly EOS treatment, patients with skeletal dysplasias experienced a higher incidence of complications compared to those with other syndromes. Surgical growth-friendly treatment for skeletal dysplasia-associated EOS should be reserved for patients with severe, progressive deformities that are refractory to nonoperative treatment.Cite this article: Bone Joint J 2024;106-B(6):596–602.

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Best practice guidelines for management of spinal disorders in skeletal dysplasia

Cited by 17 publications

References 55 publications

Fat infiltration in the thigh muscles is associated with symptomatic spinal stenosis and reduced physical functioning in adults with achondroplasia

Fat infiltration in the thigh muscles is associated with symptomatic spinal stenosis and reduced physical functioning in adults with achondroplasia

Spinal Manifestations of Skeletal Dysplasia: A Practical Guide for Clinical Diagnosis

Outcomes after completing growth-friendly surgical treatment for early-onset scoliosis in patients with skeletal dysplasia

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