Une première observation d’un effet du genre dans la SMA

Italian clinicians investigated new predictive factors for the evolution of SMA according to age, type of SMA and gender in 165 adult patients.

  • There were 64 females and 101 males: 13% with type II, 85% with type III and 2% with type IV SMA and with 46% able to sit (sitters) and 54% able to walk (walkers).
  • No significant differences were reported between the two sexes for the distribution of SMA type or for the median SMN2 copy number.
  • For the first time, an effect of gender on motor function was found in these adults with the HFMSE, RULM and 6-minute walk test: a higher severity of the disease was found in males, especially in young adults or those with type III SMA.
  • Concerning the median age of disease onset, it is earlier in women (at age 3) than in men (at age 4).


Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease. Maggi L, Bello L, Bonanno S et al. J Neurol Neurosurg Psychiatry. 2022 Oct.