ArticleArquivos de neuro-psiquiatria2026
When to think of genetic causes for rhabdomyolysis? A Brazilian single-center exploratory study.
Article in Arquivos de neuro-psiquiatria, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Rhabdomyolysis is a potentially life-threatening condition that can result from genetic causes. Despite that, little is known about the genetic underpinnings behind monogenic rhabdomyolysis in Brazil. Objective: To address the frequency and predictive factors for monogenic causes of rhabdomyolysis in a Brazilian series. Methods: Patients presenting with rhabdomyolysis at Universidade Estadual de Campinas (UNICAMP) from April 2024 to October 2025 were selected. Rhabdomyolysis was defined when (1) there was at least 1 episode of creatine kinase (CK) levels ≥ 5x upper limit of normal (ULN) not better explained by exogeneous factors and (2) at least 1 of the RHABDO criteria (R - recurrent episodes of exertional rhabdomyolysis; H - hyperCKemia persisting more than 8 weeks after event; A: accustomed physical exercise; B - blood creatine kinase (CK) > 50x ULN; D - drug ingestion/medication/supplements or other exogenous and endogenous factors cannot sufficiently explain the rhabdomyolysis severity; O - other family members affected / other exertional symptoms [e.g., cramps or myalgia]). was met. A 2-step genetic investigation was undertaken: first a 50-gene panel enriched in metabolic myopathy genes and for those with negative results, whole exome sequencing (WES). Clinical and demographic data of patients with and without gene etiology were then compared. Results: We identified 20 patients, 8 of whom were men, with mean age at the first episode of rhabdomyolysis of 19.5 (2-50) years old. Monogenic etiology was found in 9 of the patients. The associated genes were Conclusion: After properly exclusion of exogenous etiologies, monogenic causes accounted for nearly half of the cases of rhabdomyolysis. Genetic testing should be pursued in those patients with persistent CK elevation, presence of myalgia, objective weakness or parental consanguinity.
Indexed as
Identifiers
What Socratic 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 Socratic graph.