The prevalence of morbidities appears to be higher in adult patients with spinal muscular atrophy (SMA) compared to adults without SMA, according to a study published in the Orphanet Journal of Rare Diseases. During the study, the adults with SMA also tended to have the morbidities occur earlier in their lifetime than adults without SMA.

The prevalence and odds ratio (OR) for all 30 morbidities included in the study were significantly higher in the SMA group. The age- and sex-adjusted ORs ranged from 1.61 for hypothyroidism on the low end to 24.3 for intellectual disabilities on the high end.

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“The findings from this study suggest that adults with vs. without SMA had a higher prevalence and OR of morbidities across several physiologic systems and multimorbidity that were disproportionately occurring at younger ages,” the authors wrote.

The ORs between adults with vs without SMA tended to be the highest for the youngest age groups (18-39 years of age) and decreased with age. While the ORs declined with age, they still were significant at the highest age group of greater than or equal to 75 years of age with ranges from 1.30 for cancer to 5.96 for neurogenic bowel/bladder.

Differences in ORs between adults with and without SMA were also found between sexes for 13 of the morbidities. The impact of sex varied depending on the morbidity with some having higher ORs for females, such as cardiovascular diseases and sleep disorders, and others for males, such as bone fragility, mental health disorders, dementia, and nutrition or gastrointestinal disorders.

“These findings highlight the need for clinical awareness of a high-early burden of morbidities as children with SMA age into and throughout their adult years, such as cardiorespiratory diseases, diabetes, renal disease, bone fragility, and mental health disorders,” the authors wrote.

The study included 2,427 adults with SMA from either the Medicare fee-for-service database or Optum’s deidentified Clinformatics® Data Mart Database and matched them with 484,528 adults without SMA from the Optum database. While the claims databases provide useful data on the presence of morbidities in the different cohorts, they do not provide information on the severity of the morbidities.


Whitney DG, Knierbein EEN, Daunter AK. Prevalence of morbidities across the lifespan for adults with spinal muscular atrophy: a retrospective cohort study. Orphanet J Rare Dis. Published online August 31, 2023. doi:10.1186/s13023-023-02872-6