Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease.
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Maggi Lorenzo, Bello Luca, Bonanno Silvia, Govoni Alessandra, Caponnetto Claudia, Passamano Luigia, Grandis Marina, Trojsi Francesca, Cerri Federica, Gardani Alice, Ferraro Manfredi, Gadaleta Giulio, Zangaro Vittoria, Caumo Luca, Maioli Mariantonietta, Tanel Raffaella, Saccani Elena, Meneri Megi, Vacchiano Veria, Ricci Giulia, Sorarù Gianni, D'Errico Eustachio, Bortolani Sara, Pavesi Giovanni, Gellera Cinzia, Zanin Riccardo, Corti Stefania, Silvestrini Mauro, Politano Luisa, Schenone Angelo, Previtali Stefano Carlo, Berardinelli Angela, Turri Mara, Verriello Lorenzo, Coccia Michela, Mantegazza Renato, Liguori Rocco, Filosto Massimiliano, Marrosu Gianni, Tiziano Francesco Danilo, Siciliano Gabriele, Simone Isabella Laura, Mongini Tiziana, Comi Giacomo, Pegoraro Elena
Аннотация
METHODS: Inclusion criteria were as follows: (1) clinical and molecular diagnosis of SMA2, SMA3 or SMA4 and (2) clinical assessments performed in adult age (>18 years).
RESULTS: We included 64 (38.8%) females and 101 (61.2%) males (p=0.0025), among which 21 (12.7%) SMA2, 141 (85.5%) SMA3 and 3 (1.8%) SMA4. Ratio of sitters/walkers within the SMA3 subgroup was significantly (p=0.016) higher in males (46/38) than in females (19/38). Median age at onset was significantly (p=0.0071) earlier in females (3 years; range 0-16) than in males (4 years; range 0.3-28), especially in patients carrying 4 SMN2 copies. Median Hammersmith Functional Rating Scale Expanded scores were significantly (p=0.0040) lower in males (16, range 0-64) than in females (40, range 0-62); median revised upper limb module scores were not significantly (p=0.059) different between males (24, 0-38) and females (33, range 0-38), although a trend towards worse performance in males was observed. In SMA3 patients carrying three or four SMN2 copies, an effect of female sex in prolonging ambulation was statistically significant (p=0.034).
CONCLUSIONS: Our data showed a relevant gender effect on SMA motor function with higher disease severity in males especially in the young adult age and in SMA3 patients.