ReviewThe application of clinical genetics2013
Proximal spinal muscular atrophy: current orthopedic perspective.
Review in The application of clinical genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
26 citing papers in PubMed, 49 citations in OpenAlex.
- Trial
- Hip displacement management in spinal muscular atrophy in the era of disease modifying therapies: a Delphi consensus study in the UK.EClinicalMedicine · 2026Article
- Hip instability and scoliosis in children with spinal muscular atrophy: a single center retrospective study in the United Arab Emirates.Frontiers in pediatrics · 2026Article
- Post-Marketing Safety of Spinal Muscular Atrophy Therapies: Analysis of Spontaneous Adverse Drug Reactions from EudraVigilance.Journal of clinical medicine · 2025Article
- Feature Engineering for the Prediction of Scoliosis in 5q-Spinal Muscular Atrophy.Journal of cachexia, sarcopenia and muscle · 2025Article
- Beyond Contractures in Spinal Muscular Atrophy: Identifying Lower-Limb Joint Hypermobility.Journal of clinical medicine · 2024Article
- Diving into progress: a review on current therapeutic advancements in spinal muscular atrophy.Frontiers in neurology · 2024Review
- Multidisciplinary physical rehabilitation program of individuals with spinal muscular atrophy in an inclusive school setting.Journal of pediatric rehabilitation medicine · 2024Article
- Nusinersen Treatment of Children with Later-Onset Spinal Muscular Atrophy and Scoliosis Is Associated with Improvements or Stabilization of Motor Function.Journal of clinical medicine · 2023Article
- WNT-β Catenin Signaling as a Potential Therapeutic Target for Neurodegenerative Diseases: Current Status and Future Perspective.Diseases (Basel, Switzerland) · 2023Review
- Clinical and Functional Characteristics of a New Phenotype of SMA Type I among a National Sample of Spanish Children: A Cross-Sectional Study.Children (Basel, Switzerland) · 2023Article
- Association between spinal muscular atrophy type and delayed diagnosis and the risk of spinal deformity in Indonesian patients.European journal of medical research · 2023Article
- Scoliosis in Spinal Muscular Atrophy Type 1 in the Nusinersen Era.Neurology. Clinical practice · 2022Article
- Management of arthrofibrosis in neuromuscular disorders: a review.BMC musculoskeletal disorders · 2022Review
- Experience and Perspectives in the US on the Evolving Treatment Landscape in Spinal Muscular Atrophy.International journal of general medicine · 2022Article
- Treatment preference among patients with spinal muscular atrophy (SMA): a discrete choice experiment.Orphanet journal of rare diseases · 2021Article
- Proximal Limb Girdle Weakness, Joint Hyperlaxity, and preserved Deep Tendon Reflexes: A Distinctive Phenotype.Indian pediatrics · 2020Article
- Incidence of complications in the management of non-ambulatory neuromuscular early-onset scoliosis with a rib-based growing system: high- versus low-tone patients.European journal of orthopaedic surgery & traumatology : orthopedie traumatologie · 2020Article
- Management and current status of spinal muscular atrophy: a retrospective multicentre claims database analysis.Orphanet journal of rare diseases · 2020Article
- Patient characteristics and hospitalisation costs of spinal muscular atrophy in Spain: a retrospective multicentre database analysis.BMJ open · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Spinal muscular atrophy (SMA) is a hereditary neuromuscular disease of lower motor neurons that is caused by a defective "survival motor neuron" (SMN) protein that is mainly associated with proximal progressive muscle weakness and atrophy. Although SMA involves a wide range of disease severity and a high mortality and morbidity rate, recent advances in multidisciplinary supportive care have enhanced quality of life and life expectancy. Active research for possible treatment options has become possible since the disease-causing gene defect was identified in 1995. Nevertheless, a causal therapy is not available at present, and therapeutic management of SMA remains challenging; the prolonged survival is increasing, especially orthopedic, respiratory and nutritive problems. This review focuses on orthopedic management of the disease, with discussion of key aspects that include scoliosis, muscular contractures, hip joint disorders, fractures, technical devices, and a comparative approach of conservative and surgical treatment. Also emphasized are associated complications including respiratory involvement, perioperative care and anesthesia, nutrition problems, and rehabilitation. The SMA disease course can be greatly improved with adequate therapy with established orthopedic procedures in a multidisciplinary therapeutic approach.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.