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. 2022 Oct;66(4):453-461.
doi: 10.1002/mus.27679. Epub 2022 Aug 12.

Muscle ultrasound is a sensitive biomarker in oculopharyngeal muscular dystrophy

Rosemarie H M J M Kroon  1 , Johanna G Kalf  1 , Rutger L Meijers  2 , Bert J M de Swart  1 , Ian G M Cameron  3   4 , Jonne Doorduin  2 , Nens van Alfen  2 , Baziel G M van Engelen  2 , Corinne G C Horlings  2   5
Affiliations

Muscle ultrasound is a sensitive biomarker in oculopharyngeal muscular dystrophy

Rosemarie H M J M Kroon et al. Muscle Nerve. 2022 Oct.

Abstract

Introduction/aims: Oculopharyngeal muscular dystrophy (OPMD) is a late-onset, progressive muscle disease. Quantitative muscle ultrasound (QMUS) assesses structural changes in muscles and is a sensitive biomarker in neuromuscular disorders. Our aim of this study was to determine whether QMUS can detect muscle pathology and can be used as longitudinal imaging biomarker in OPMD.

Methods: Genetically confirmed OPMD patients, recruited by their treating physicians or from the national neuromuscular database, were examined twice, 20 months apart, using QMUS of orofacial and limb muscles, and measurements of functional capacity and muscle strength. Absolute echo intensity (AEI) and muscle thickness of all muscles were analyzed and correlated with clinical data.

Results: The tongue, deltoid, iliopsoas, rectus femoris, and soleus muscles showed increased AEI at baseline compared with normal values in 43 OPMD patients, with the rectus femoris being most often affected (51%).The AEI and muscle thickness of 9 of 11 muscles correlated significantly with the motor function measure, 10-step stair test, swallowing capacity, dynamometry, Medical Research Council grade, tongue strength, and bite force (r = 0.302 to -0.711). Between baseline and follow-up, deterioration in AEI was found for the temporalis, tongue, and deltoid muscles, and decreased muscle thickness was detected for the temporalis, masseter, digastric, tongue, deltoid, iliopsoas, and soleus muscles (P < .05). No relation was found between the change in AEI and repeat length or disease duration.

Discussion: QMUS detected muscle pathology and disease progression in OPMD over 20 months. We conclude that QMUS should be considered as a biomarker in treatment trials.

Keywords: biomarker; clinical measures; muscle ultrasound; oculopharyngeal muscular dystrophy; orofacial and limb muscles.

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Conflict of interest statement

None of the authors has any conflict of interest to disclose.

Figures

FIGURE 1
FIGURE 1
Flowchart of participant recruitment and inclusion.
FIGURE 2
FIGURE 2
Distribution of the measured muscles (absolute echo intensity) at baseline and follow‐up.
See this image and copyright information in PMC

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