From the Departments of Rehabilitation (R.H.M.J.M.K., J.G.K., B.J.M.d.S.) and Neurology (B.G.M.v.E., C.G.C.H.), Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen; Department of Radiology (L.H.), University Medical Centre Utrecht; Department of Imaging (J.W.J.d.R.), Radboud University Medical Center, Nijmegen; and Department of Neurology (C.G.C.H.), Medical University of Innsbruck, Austria.
Neurology. 2024 Jan 9;102(1):e207833. doi: 10.1212/WNL.0000000000207833. Epub 2023 Dec 14.
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.
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.
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 ( = -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 ( < 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 ( = 0.323 to -0.412, < 0.05).
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.
眼咽型肌营养不良症（OPMD）是一种罕见的进行性神经肌肉疾病。磁共振成像（MRI）是神经肌肉疾病中用于评估肌肉改变的技术之一。本研究的目的是描述使用定量肌肉 MRI 在大型全国队列中口面和腿部肌肉脂肪浸润的模式，并确定 MRI 是否可作为 OPMD 疾病进展的影像学生物标志物。
从国家神经肌肉数据库或经治医生处邀请年龄在 18 岁及以上的 OPMD 患者，并在 20 个月的间隔内进行两次检查，对口面和腿部肌肉进行定量 MRI 以评估脂肪浸润，并与临床指标进行比较。
在 43 例经基因证实的 OPMD 患者中，受影响最严重的肌肉为舌（平均脂肪分数：37.0%，标准差 16.6%）、内收大肌（31.9%，27.1%）和比目鱼肌（27.9%，21.5%）。股直肌和胫骨前肌受影响最小（平均脂肪分数：6.8%，标准差 4.7%，7.5%，5.9%）。14 项临床任务中有 11 项与相应肌肉的脂肪分数呈显著相关（ = -0.312 至-0.769，CI = -0.874 至-0.005）。在随访中，26 块肌肉中有 17 块的脂肪分数明显增加：大腿肌肉平均增加 1.7%（CI = 0.8-2.4），小腿肌肉增加 1.7%（1.0-2.3），口面肌肉增加 1.9%（0.6-3.3）（<0.05）。比目鱼肌的增加最大（3.8%，CI = 2.5-5.1）。在 7 块腿部肌肉中，发现疾病持续时间和重复长度与脂肪分数增加之间存在相关性（ = 0.323 至-0.412，<0.05）。
根据定量肌肉 MRI，舌、内收大肌和比目鱼肌在 OPMD 患者中显示出最大的脂肪浸润水平。在 20 个月内，数块口面和腿部肌肉的脂肪分数增加，其中比目鱼肌的脂肪分数增加最大。这项研究支持该技术足够灵敏，可以显示口面和腿部肌肉脂肪分数的恶化，因此是未来临床试验的反应性生物标志物。
