• J. Neurol. Neurosurg. Psychiatr. · Dec 2022

    Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease.

    • Lorenzo Maggi, Luca Bello, Silvia Bonanno, Alessandra Govoni, Claudia Caponnetto, Luigia Passamano, Marina Grandis, Francesca Trojsi, Federica Cerri, Alice Gardani, Manfredi Ferraro, Giulio Gadaleta, Vittoria Zangaro, Luca Caumo, Mariantonietta Maioli, Raffaella Tanel, Elena Saccani, Megi Meneri, Veria Vacchiano, Giulia Ricci, Gianni Sorarù, Eustachio D'Errico, Sara Bortolani, Giovanni Pavesi, Cinzia Gellera, Riccardo Zanin, Stefania Corti, Mauro Silvestrini, Luisa Politano, Angelo Schenone, Stefano Carlo Previtali, Angela Berardinelli, Mara Turri, Lorenzo Verriello, Michela Coccia, Renato Mantegazza, Rocco Liguori, Massimiliano Filosto, Gianni Marrosu, Francesco Danilo Tiziano, Gabriele Siciliano, Isabella Laura Simone, Tiziana Mongini, Giacomo Comi, and Elena Pegoraro.
    • Neuroimmunology and Neuromuscular Disease Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy lorenzo.maggi@istituto-besta.it.
    • J. Neurol. Neurosurg. Psychiatr. 2022 Dec 1; 93 (12): 125312611253-1261.

    BackgroundNatural history of spinal muscular atrophy (SMA) in adult age has not been fully elucidated yet, including factors predicting disease progression and response to treatments. Aim of this retrospective, cross-sectional study, is to investigate motor function across different ages, disease patterns and gender in adult SMA untreated patients.MethodsInclusion criteria were as follows: (1) clinical and molecular diagnosis of SMA2, SMA3 or SMA4 and (2) clinical assessments performed in adult age (>18 years).ResultsWe 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).ConclusionsOur 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.© Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ.

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