ArticleMedicine2026
Spinal muscular atrophy type I in a 3.5-month-old male infant: A case report.
Article in Medicine, 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
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
rationaleSpinal muscular atrophy (SMA) is a rare autosomal recessive neuromuscular disorder that causes muscle weakness and hypotonia in infants due to survival motor neuron (SMN) protein degeneration. There are 5 recognized main subtypes of SMA, based on the age symptom onset, disease severity, and life expectancy. SMA type I (Werdnig-Hoffmann disease) is the most severe form, with symptom onset before 6 months of age. PATIENT CONCERNS: We report the case of a 3.5-month-old male infant who presented with complaints of feeding difficulty, weak sucking power, reduced muscle tone, tongue fasciculations, and delayed motor milestones since birth. There was no cognitive or sensory impairment. DIAGNOSES: Antenatal history revealed polyhydramnios and reduced fetal movements in the third trimester. Electromyography revealed severe motor neuropathy in lower limbs, and multiplex ligation-dependent probe amplification analysis confirmed homozygous deletion of the survival motor neuron 1 gene, establishing the diagnosis of SMA type I.
interventionsThe patient was managed with supportive measures, including feeding support via a nasogastric tube, respiratory monitoring, and genetic counseling for the family. OUTCOMES: Regular follow-up was advised. Disease-modifying therapies were discussed, but were not available due to resource limitations. LESSONS: Early recognition and diagnosis of SMA Type I are important to improve survival and clinical outcomes in the patient. Genetic counseling, establishing standardized diagnostic procedures, and ensuring access to new treatments are crucial for optimizing patient care.
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.