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. 2024 Jan 9;102(1):e207833.
doi: 10.1212/WNL.0000000000207833. Epub 2023 Dec 14.

Muscle MRI in Patients With Oculopharyngeal Muscular Dystrophy: A Longitudinal Study

Affiliations

Muscle MRI in Patients With Oculopharyngeal Muscular Dystrophy: A Longitudinal Study

Rosemarie H M J M Kroon et al. Neurology. .

Erratum in

  • Corrections to Received Date Information.
    [No authors listed] [No authors listed] Neurology. 2024 Jul 9;103(1):e209596. doi: 10.1212/WNL.0000000000209596. Epub 2024 Jun 3. Neurology. 2024. PMID: 38830175 Free PMC article. No abstract available.

Abstract

Background and objectives: Oculopharyngeal muscular dystrophy (OPMD) is a rare progressive neuromuscular disease. MRI is one of the techniques that is used in neuromuscular disorders to evaluate muscle alterations. The aim of this study was to describe the pattern of fatty infiltration of orofacial and leg muscles using quantitative muscle MRI in a large national cohort and to determine whether MRI can be used as an imaging biomarker of disease progression in OPMD.

Methods: Patients with OPMD (18 years or older) were invited from the national neuromuscular database or by their treating physicians and were examined twice with an interval of 20 months, with quantitative MRI of orofacial and leg muscles to assess fatty infiltration which were compared with clinical measures.

Results: In 43 patients with genetically confirmed OPMD, the muscles that were affected most severely were the tongue (mean fat fraction: 37.0%, SD 16.6), adductor magnus (31.9%; 27.1), and soleus (27.9%; 21.5) muscles. The rectus femoris and tibialis anterior muscles were least severely affected (mean fat fractions: 6.8%; SD 4.7, 7.5%; 5.9). Eleven of 14 significant correlations were found between fat fraction and a clinical task in the corresponding muscles (r = -0.312 to -0.769, CI = -0.874 to -0.005). At follow-up, fat fractions had increased significantly in 17 of the 26 muscles: mean 1.7% in the upper leg muscles (CI = 0.8-2.4), 1.7% (1.0-2.3) in the lower leg muscles, and 1.9% (0.6-3.3) in the orofacial muscles (p < 0.05). The largest increase was seen for the soleus (3.8%, CI = 2.5-5.1). Correlations were found between disease duration and repeat length vs increased fat fraction in 7 leg muscles (r = 0.323 to -0.412, p < 0.05).

Discussion: According to quantitative muscle MRI, the tongue, adductor magnus and soleus show the largest fat infiltration levels in patients with OPMD. Fat fractions increased in several orofacial and leg muscles over 20 months, with the largest fat fraction increase seen in the soleus. This study supports that this technique is sensitive enough to show worsening in fat fractions of orofacial and leg muscles and therefore a responsive biomarker for future clinical trials.

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Conflict of interest statement

The authors report no disclosures relevant to the manuscript. Go to Neurology.org/N for full disclosures.

Figures

Figure 1
Figure 1. Typical Examples of a Dixon Fat Fraction Image of the Right Upper Leg, Right Lower Leg, and Head-Neck
(A) Regions of interest per muscle of the upper leg. AM = adductor magnus; BFL = biceps femoris long head; BFS = biceps femoris short head; G = gracilis; RF = rectus femoris; S = sartorius; SM = semimembranosus; ST = semitendinosus; VI = vastus intermedius; VL = vastus lateralis; VM = vastus medialis. (B) Regions of interest per muscle of the lower leg. EDL_EDH = extensor digitorum/hallucis longus; FDL = flexor digitorum longus; GL = gastrocnemius lateralis; GM = gastrocnemius medialis; PB_PL = peroneus brevis and longus; SOL = soleus; TA = tibialis anterior; TP = tibialis posterior. (C) Regions of interest per muscle of the orofacial muscles. M = masseter, P = pterygoid medialis and T = tongue. R = right, L = left.
Figure 2
Figure 2. Patient Recruitment and Inclusion of the Study
Figure 3
Figure 3. Heatmap Displaying the Pattern of Fatty Infiltration in OPMD at Baseline
Each row represents a patient ordered by age. Each column represents a muscle ordered by the degree of fatty infiltration (mean fat fraction of left and right side). AL = adductor longus; AM = adductor magnus; BFL = biceps femoris long head; BFS = biceps femoris short head; EDL_EDH = extensor digitorum longus_extensor hallucis longus; FDL = flexor digitorum longus; G = Gracilis; GL = gastrocnemius lateralis; GM = gastrocnemius medialis; MA = masseter; PB_PL = peroneus brevis_peroneus longus; PM = pterygoid medialis; RF = rectus femoris; SA = sartorius; SM = semimembranosus; SOL = soleus; ST = semitendinosus; TA = tibialis anterior; TO = tongue; TP = tibialis posterior; VI = vastus intermedius; VL = vastus lateralis; VM = vastus medialis. White bar = no MRI scan due to technical errors or claustrophobia. Bold age = asymptomatic carrier.
Figure 4
Figure 4. Mean Fat Fraction of the Tongue Muscle Correlates With Maximum Isometric Tongue Strength (kPa)

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