Natural History of Mandibular Function in Spinal Muscular Atrophy Types 2 and 3

Overview

Journal J Neuromuscul Dis

Publisher Sage Publications

Specialty Neurology

Date 2024 Mar 22

PMID 38517801

Authors

H Willemijn van Bruggen

Camiel A Wijngaarde

Faylynn Asselman

Marloes Stam

Nico H J Creugers

Renske I Wadman

W Ludo van der Pol

Stanimira I Kalaykova

Affiliations

Soon will be listed here.

Abstract

Background: Hereditary proximal spinal muscular atrophy (SMA) is characterized by abnormal alpha motor neuron function in brainstem and spinal cord. Bulbar dysfunction, including limited mouth opening, is present in the majority of patients with SMA but it is unknown if and how these problems change during disease course.

Objective: In this prospective, observational, longitudinal natural history study we aimed to study bulbar dysfunction in patients with SMA types 2 and 3.

Methods: We included 44 patients with SMA types 2 and 3 (mean age was 33.6 (95% CI 28.4;38.9) and re-examined them after on average 4 years. None were treated with SMN-modulating treatments before or during the course of this study. Longitudinal assessments included a questionnaire on mandibular and bulbar function, the Mandibular Function Impairment Questionnaire (MFIQ), and a clinical examination of masticatory performance, maximum voluntary bite force, and mandibular movements including the active maximal mouth opening.

Results: We found significant higher MFIQ scores and a significant decrease of all mandibular movements in patients with SMA type 2 (p < 0.001), but not in SMA type 3. Masticatory performance and maximum voluntary bite force did not change significantly. Mean reduction of active maximal mouth opening at follow-up was 3.5 mm in SMA type 2 (95% CI: 2.3; 4.7, p < 0.001). SMA type 2 was an independent predictor for a more severe reduction of the mouth opening (β= -2.0 mm (95% CI: -3.8; -0.1, p = 0.043)).

Conclusions: Bulbar functions such as mandibular mobility and active maximum mouth opening decrease significantly over the course of four years in patients with SMA type 2.

Citing Articles

Maximal mouth opening in infants and toddlers with spinal muscular atrophy: a prospective controlled study.

Zang J, Weiss D, Dumitrascu C, Glinzer J, Wegner M, Strube A Orphanet J Rare Dis. 2025; 20(1):24.

PMID: 39815373 PMC: 11734460. DOI: 10.1186/s13023-024-03524-z.

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