ArticleOrphanet journal of rare diseases2020
High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study.
Article in Orphanet journal of rare diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 45 citations in OpenAlex.
- UK consensus guidelines for multidisciplinary care of children and young people with achondroplasia: a modified Delphi process.Archives of disease in childhood · 2026Guideline
- Surgical Correction of Thoracolumbar Kyphosis in Achondroplasia: Complications, Pitfalls, and Reflections on the Pursuit of Maximal Realignment in View of Correction Leading to Functional Disability.Journal of clinical medicine · 2026Article
- Effect of vosoritide on spine morphology in children with achondroplasia: 1-year results from a randomized phase 2 study.Journal of the Endocrine Society · 2026Article
- An overview of the International Consensus Statement on achondroplasia.Orphanet journal of rare diseases · 2026Review
- Clinical burden and healthcare resource utilization associated with achondroplasia: a real-world observational, retrospective cohort study.Orphanet journal of rare diseases · 2025Observational
- Body composition, anthropometry, and resting energy expenditure in adults with achondroplasia: a pilot study to determine best practices.Orphanet journal of rare diseases · 2025Article
- Mental health conditions, physical functioning, and health-related quality of life in adults with a skeletal dysplasia: a cross-sectional multinational study.Orphanet journal of rare diseases · 2025Article
- Assessing the clinical relevance of MRI findings in adult achondroplasia patients with lumbar spinal stenosis.Brain & spine · 2025Article
- Complicated Spinal Stenosis and Spinal Deformity in Patients with Achondroplasia: Case Series and Review of the Literature.Orthopaedic surgery · 2024Review
- Perioperative Complications Following Spine Surgery in Adult Patients with Achondroplasia.Global spine journal · 2024Article
- European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia.Advances in therapy · 2024Article
- Article
- Work participation in adults with rare genetic diseases - a scoping review.BMC public health · 2023Article
- Fat infiltration in the thigh muscles is associated with symptomatic spinal stenosis and reduced physical functioning in adults with achondroplasia.Orphanet journal of rare diseases · 2023Article
- Optimising care and follow-up of adults with achondroplasia.Orphanet journal of rare diseases · 2022Article
- Literature review and expert opinion on the impact of achondroplasia on medical complications and health-related quality of life and expectations for long-term impact of vosoritide: a modified Delphi study.Orphanet journal of rare diseases · 2022Article
- Long-Term Results of Posterior Vertebral Column Resection for Severe Thoracolumbar Kyphosis with Achondroplastic Patients: A Case Series.Medicina (Kaunas, Lithuania) · 2022Article
- [Clinical features andZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2022Article
- International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia.Nature reviews. Endocrinology · 2022Review
- Inconvenience and adaptation in Japanese adult achondroplasia and hypochondroplasia: A cross-sectional study.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2022Article
Corrections and comments
- Erratum issued
Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSymptomatic spinal stenosis (SSS) is a well-known medical complication in achondroplasia. The reported prevalence of SSS is 10 to 30%, an estimate based on small studies or selected populations. No population-based studies exist currently. Furthermore, the relationship between SSS and physical functioning has not been investigated in detail. The aims of this study were to describe the prevalence of SSS in Norwegian adults with achondroplasia, and to explore the impact of SSS on physical functioning.
methodsThis was a population-based study on Norwegian community-dwelling adults with genetically confirmed achondroplasia. Prevalence of SSS was defined by clinical symptoms, and confirmed by imaging or surgical reports. Physical functioning was assessed by walking capacity (6-min walk test), hand strength (Grippit), and activities of daily living (the Health Assessment Questionnaire, HAQ). Pain was assessed by pain site locations and intensity (Numeric Rating Scale, NRS).
resultsIn total, 50 participants were included (27 males, 23 females). Median age was 41 years (range 16 to 87 years), 34 (68%) had SSS. The estimated median age at first symptom onset was 33 years (95% confidence interval (CI) 29 to 43 years), range 10 to 67 years. The majority had multiple spinal levels affected. The walking distance was 110 m shorter in the SSS group (95% CI - 172 to - 40 m) as compared with the non-SSS group (p < 0.01). There was no considerable difference in hand strength between the two groups. Mean HAQ scores (0-3) for walking and hygiene were significantly higher in the SSS group, reflecting more activity limitations. Mean differences were 0.9 (95% CI 0.3 to 1.4, p < 0.01) and 0.6 (95% CI 0.2 to 1.0, p < 0.01). Pain intensity (NRS 0-10) was also significantly higher in the SSS group with a mean difference of 3.2 (95% CI 0.6 to 5.6, p = 0.02).
conclusionsSSS was highly prevalent in Norwegian adults with achondroplasia, with symptom onset at young age, and multiple spinal levels affected. The presence of SSS was associated with reduced walking distance, activity limitations, and more pain. The findings underline the importance of thorough assessment and monitoring of SSS in achondroplasia, including a formal assessment of physical functioning.
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