Spinal muscular atrophy is also a disorder of spermatogenesis

Spinal muscular atrophy (SMA) patients benefit from pre-mRNA splicing modifiers targeting the SMN2 gene, which aims to increase functional SMN production. The animal toxicity affecting spermatogenesis associated with one such treatment raised questions about male SMA patients' spermatogenesis....

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Bibliographic Details
Published in:Orphanet journal of rare diseases 2024-12, Vol.19 (1), p.476-9
Main Authors: Magot, Armelle, Reignier, Arnaud, Binois, Olivier, Bedat-Millet, Anne Laure, Davion, Jean-Baptiste, Debergé, Louise, Ghorab, Karima, Guyant, Lucie, Laheranne, Émilie, Laforet, Pascal, Lefeuvre, Claire, Mallaret, Martial, Michaud, Maud, Omar, Chahla, Nadaj-Pakleza, Aleksandra, Nicolas, Guillaume, Noury, Jean Baptiste, Pegat, Antoine, Péré, Morgane, Salort-Campana, Emmanuelle, Sole, Guilhem, Spinazzi, Marco, Tard, Céline, Vuillerot, Carole, Péréon, Yann
Format: Article
Language:English
Subjects:
Adult
Analysis
Cross-Sectional Studies
Humans
Male
Medical research
Medicine, Experimental
Middle Aged
Muscular Atrophy, Spinal - genetics
Muscular Atrophy, Spinal - metabolism
Muscular Atrophy, Spinal - pathology
Muscular Atrophy, Spinal - physiopathology
Neurophysiology
RNA
Spermatogenesis
Spinal muscular atrophy
Young Adult
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Summary:Spinal muscular atrophy (SMA) patients benefit from pre-mRNA splicing modifiers targeting the SMN2 gene, which aims to increase functional SMN production. The animal toxicity affecting spermatogenesis associated with one such treatment raised questions about male SMA patients' spermatogenesis. This descriptive, cross-sectional study was conducted from June 2022 to July 2023. The study involved adult male patients with genetically confirmed SMA type 2 (SMA2) or SMA3 from 13 French neuromuscular centers. The patients' general data, motor severity, urological history, exposure to certain factors, parenthood, and spermogram results were obtained. All patients were enrolled prior to exposure to risdiplam. Sixty-eight patients were enrolled ( 36 SMA2 and 32 SMA3 patients). Forty-one patients had fertility data (parenthood history and spermogram analyses) and underwent 33 spermograms. Fertility disorders were identified in 27 of the 41 patients (65·9%, 95%CI 51·3-80·4%) in particular SMA2 patients: 19 cases (90 5%, CI 77·9-100%) (SMA3: 8 cases (40%, CI 18·5-61·5%). Among the patients with available spermograms, 81% (27/33) had abnormal sperm concentration; 30% presented azoospermia. These abnormalities were significantly associated with SMA type (more prevalent in SMA2 patients, p 
ISSN:1750-1172
1750-1172
DOI:10.1186/s13023-024-03494-2