Objective measurement of oral function in adults with spinal muscular atrophy

Orphanet J Rare Dis. 2023 May 3;18(1):103. doi: 10.1186/s13023-023-02688-4.


Background: Impairment of bulbar function in adult individuals with spinal muscular atrophy (SMA) usually is not assessed by established motor scores. Measurements of oral function including quantitative muscle and endurance tests are able to detect subtle changes. The aim of this study was to systematically evaluate the measurement of maximum bite force and endurance, maximum tongue pressure and endurance, as well as maximum mouth opening in adult individuals with SMA types 2 and 3.

Methods: Data from oral function tests in 43 individuals were analyzed. Differences in oral function between individuals with different SMA types and numbers of SMN2 copies were tested. Spearman´s rho correlations among oral function measures themselves as well as with established clinical outcome scales were analyzed.

Results: The absolute maximum measures of oral function (maximum bite force, maximum tongue pressure, maximum mouth opening) were able to discriminate between individuals with different SMA types, individuals with a different number of SMN2 copies and with different walking abilities. The pairwise correlations of the absolute maximum measures of oral function were fair to moderate in size; the same was true for their correlations with the established motor scores. All correlations assessing endurance measures of oral function were weaker and statistically insignificant.

Conclusions: Among the oral function tests maximum tongue pressure and maximum mouth opening are particulary promising as clinical and sensitive outcome measures for clinical trials. Oral function tests may supplement existing motor scores, in particular concerning specific questions about bulbar function or in severely affected non-ambulatory individuals where mild (treatment-related) changes would otherwise remain undetected. Trial registration DRKS, DRKS00015842. Registered 30 July 2019, https://drks.de/search/de/trial/DRKS00015842.

Keywords: Bite force; Bulbar neuromuscular function; Endurance; Fatigability; Fatigue; Outcome measures; Spinal muscular atrophy; Tongue pressure; Validity.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Humans
  • Muscular Atrophy, Spinal*
  • Outcome Assessment, Health Care
  • Pressure
  • Spinal Muscular Atrophies of Childhood*
  • Tongue

Associated data

  • DRKS/DRKS00015842