A first observation of a gender effect in 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.