ReviewOrphanet journal of rare diseases2017
Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review.
Review in Orphanet journal of rare diseases, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 397 papers, 6 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Spinal Muscular Atrophy Patient Registry of the United Kingdom and Ireland
Respiratory Muscle Training in Patients With Spinal Muscular Atrophy (SMA).
Who cites it
397 citing papers in PubMed, 6 syntheses or guidelines pooled it, 697 citations in OpenAlex.
- Swallowing and feeding after disease-modifying treatment for spinal muscular atrophy: a systematic review of assessment modalities and outcomes.Orphanet journal of rare diseases · 2026Pooled it
- Gene-based therapy for the treatment of spinal muscular atrophy types 1 and 2 : a systematic review and meta-analysis.Gene therapy · 2025Pooled it
- Motor Function and Safety of Nusinersen and Risdiplam in Asian Patients with Types 2-4 Spinal Muscular Atrophy (SMA): A Systematic Review and Meta-Analysis.Advances in therapy · 2025Pooled it
- A Systematic Literature Review of the Natural History of Respiratory, Swallowing, Feeding, and Speech Functions in Spinal Muscular Atrophy (SMA).Journal of neuromuscular diseases · 2024Pooled it
- Pooled it
- Systematic Literature Review of the Natural History of Spinal Muscular Atrophy: Motor Function, Scoliosis, and Contractures.Neurology · 2023Pooled it
- Inspiratory muscle training and trunk control exercises on respiratory strength and motor function in spinal muscular atrophy: randomized controlled trial.Scientific reports · 2025Trial
- Trial
- Delayed diagnosis and genetic testing in spinal muscular atrophy: a case series.Annals of medicine · 2026Article
- Real-World Treatment Patterns in Patients with Spinal Muscular Atrophy Receiving Multiple Disease-Modifying Therapies.Advances in therapy · 2026Article
- Consensus for the Diagnosis and Treatment of Patients With Spinal Muscular Atrophy (SMA) in Latin America.Revista de neurologia · 2026Article
- Gene therapy benefits in a small cohort of symptomatic 5q spinal muscular atrophy patients and real world pediatric outcomes.Jornal de pediatria · 2026Article
- Treatment Preferences in Adult Patients with Type 2 and Type 3 Spinal Muscular Atrophy: Evidence from a Discrete Choice Experiment in China.The patient · 2026Article
- Analytical Study Showing a False-Negative Limitation of Deletion-Based Newborn Screening for Spinal Muscular Atrophy Using a Compound HeterozygousInternational journal of neonatal screening · 2026Article
- A Single-Tube Nested PCR Method forMethods and protocols · 2026Article
- Article
- Electrochemical Detection of SMN Protein by Immunosensors: The Role of Surface Modifications in Screen-Printed Carbon Electrodes.Sensors (Basel, Switzerland) · 2026Article
- Longitudinal Dosing Patterns and Treatment Costs Among Patients with Spinal Muscular Atrophy Initiating Nusinersen and Risdiplam.Advances in therapy · 2026Article
- Rehabilitation approaches used for children with spinal muscular atrophy: A scoping review based on the F-words framework.Journal of pediatric rehabilitation medicine · 2026Article
- Article
337 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
Abstract
Spinal muscular atrophy linked to chromosome 5q (SMA) is a recessive, progressive, neuromuscular disorder caused by bi-allelic mutations in the SMN1 gene, resulting in motor neuron degeneration and variable presentation in relation to onset and severity. A prevalence of approximately 1-2 per 100,000 persons and incidence around 1 in 10,000 live births have been estimated with SMA type I accounting for around 60% of all cases. Since SMA is a relatively rare condition, studies of its prevalence and incidence are challenging. Most published studies are outdated and therefore rely on clinical rather than genetic diagnosis. Furthermore they are performed in small cohorts in small geographical regions and only study European populations. In addition, the heterogeneity of the condition can lead to delays and difficulties in diagnosing the condition, especially outside of specialist clinics, and contributes to the challenges in understanding the epidemiology of the disease. The frequency of unaffected, heterozygous carriers of the SMN1 mutations appears to be higher among Caucasian and Asian populations compared to the Black (Sub-Saharan African ancestry) population. However, carrier frequencies cannot directly be translated into incidence and prevalence, as very severe (death in utero) and very mild (symptom free in adults) phenotypes carrying bi-allelic SMN1 mutations exist, and their frequency is unknown. More robust epidemiological data on SMA covering larger populations based on accurate genetic diagnosis or newborn screening would be helpful to support planning of clinical studies, provision of care and therapies and evaluation of outcomes.
Indexed as
Identifiers
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.