Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease. Issue 12 (11th October 2022)

• Record Type: Journal Article
• Authors: 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;
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 93:Issue 12(2022)
• Page Start: 1253
• Page End: 1261
• Publication Date: 2022-10-11
• Subjects: SPINAL MUSCULAR ATRO -- NEUROMUSCULAR -- MOTOR NEURON DISEASE; Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp-2022-329320
• Languages: English
• ISSNs: 0022-3050

Abstract

Abstract : Background: Natural 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. 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.