ArticleJournal of neuromuscular diseases2023
Sex Difference in Spinal Muscular Atrophy Patients - are Males More Vulnerable?
Article in Journal of neuromuscular diseases, 2023. 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 21 papers, 1 of them a synthesis that pooled it.
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.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- The male-to-female ratio in late-onset multiple acyl-CoA dehydrogenase deficiency: a systematic review and meta-analysis.Orphanet journal of rare diseases · 2024Pooled it
- Low bone mineral density in non-ambulatory adolescents relates to lower correction of neuromuscular scoliosis after posterior spinal fusion.Spine deformity · 2026Article
- Survival Motor Neuron Protein Requirement-Supply Mismatch in Spinal Muscular Atrophy: A Conceptual Framework.Advances in therapy · 2026Review
- Rehabilitation approaches used for children with spinal muscular atrophy: A scoping review based on the F-words framework.Journal of pediatric rehabilitation medicine · 2026Article
- Retrospective analysis of spinal muscular atrophy in tunisian population: phenotypic-genotypic associations and considerations for therapeutic advancement.Neurogenetics · 2026Article
- Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study.Journal of neuromuscular diseases · 2026Article
- Nusinersen for type-III spinal muscular atrophy: a 12-month retrospective study in a Brazilian cohort.Arquivos de neuro-psiquiatria · 2026Article
- Loss of ambulation in SMA III at the time of disease-modifying treatments: an international study.Journal of neurology, neurosurgery, and psychiatry · 2026Article
- Astrocyte targeted SMN1 gene therapy and forskolin application improves astrocyte filopodia actin defects and motor neuron synaptic dysfunction in human SMA disease pathology.bioRxiv : the preprint server for biology · 2026Article
- Mapping Health State Utility from Disease-Specific Measures in Spinal Muscular Atrophy and Paroxysmal Nocturnal Hemoglobinuria.PharmacoEconomics · 2026Article
- Equity in neuromuscular research: a 20-year analysis of race, ethnicity, sex, and age representation.Journal of neurology · 2025Article
- High Expression of SMN circ4-2b-3 in SMA I Children Treated with Nusinersen is Associated with Improved Motor Outcomes.Molecular neurobiology · 2025Article
- A state-of-the-art review of registries in spinal muscular atrophy: A valuable resource for clinical research.Journal of neuromuscular diseases · 2025Review
- Biomarkers in spinal muscular atrophy.Frontiers in neurology · 2025Review
- Article
- Heterozygous knockout of Synaptotagmin13 phenocopies ALS features and TP53 activation in human motor neurons.Cell death & disease · 2024Article
- Sexual dimorphisms in skeletal muscle: current concepts and research horizons.Journal of applied physiology (Bethesda, Md. : 1985) · 2024Review
- No significant sex differences in incidence or phenotype for the SMNΔ7 mouse model of spinal muscular atrophy.Neuromuscular disorders : NMD · 2024Article
- Real-World Safety Data of the Orphan Drug Onasemnogene Abeparvovec (ZolgensmaPharmaceuticals (Basel, Switzerland) · 2024Article
- A transcriptomics-based drug repositioning approach to identify drugs with similar activities for the treatment of muscle pathologies in spinal muscular atrophy (SMA) models.Human molecular genetics · 2024Article
Corrections and comments
- Erratum issued
Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
Abstract
backgroundSex is a significant risk factor in many neurodegenerative disorders. A better understanding of the molecular mechanisms behind sex differences could help develop more targeted therapies that would lead to better outcomes. Untreated spinal muscular atrophy (SMA) is the leading genetic motor disorder causing infant mortality. SMA has a broad spectrum of severity ranging from prenatal death to infant mortality to normal lifespan with some disability. Scattered evidence points to a sex-specific vulnerability in SMA. However, the role of sex as a risk factor in SMA pathology and treatment has received limited attention.
objectiveSystematically investigate sex differences in the incidence, symptom severity, motor function of patients with different types of SMA, and in the development of SMA1 patients.
methodsAggregated data of SMA patients were obtained from the TREAT-NMD Global SMA Registry and the Cure SMA membership database by data enquiries. Data were analyzed and compared with publicly available standard data and data from published literature.
resultsThe analysis of the aggregated results from the TREAT-NMD dataset revealed that the male/female ratio was correlated to the incidence and prevalence of SMA from different countries; and for SMA patients, more of their male family members were affected by SMA. However, there was no significant difference of sex ratio in the Cure SMA membership dataset. As quantified by the clinician severity scores, symptoms were more severe in males than females in SMA types 2 and 3b. Motor function scores measured higher in females than males in SMA types 1, 3a and 3b. The head circumference was more strongly affected in male SMA type 1 patients.
conclusionsThe data in certain registry datasets suggest that males may be more vulnerable to SMA than females. The variability observed indicates that more investigation is necessary to fully understand the role of sex differences in SMA epidemiology, and to guide development of more targeted treatments.
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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.