Upper limb disease evolution in exon 53 skipping eligible patients with Duchenne muscular dystrophy.
Upper limb disease evolution in exon 53 skipping eligible patients with Duchenne muscular dystrophy.
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DOI：
10.1002/acn3.51417
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发表时间：
2021-10
影响因子：
5.3
通讯作者：
PreU7 Study Group
中科院分区：
文献类型：
--
作者：
Lilien C;Reyngoudt H;Seferian AM;Gidaro T;Annoussamy M;Chê V;Decostre V;Ledoux I;Le Louër J;Guemas E;Muntoni F;Hogrel JY;Carlier PG;Servais L;PreU7 Study Group
使用功能评估和定量磁共振成像（MRI）了解非卧床和非卧床杜氏肌营养不良（DMD）患者3年内上肢自然疾病进展，并探索性识别预后因素。纳入了40名DMD男孩（22名非卧床和18名非卧床），其肌营养不良蛋白缺失使其符合53号外显子跳跃治疗的条件。每6个月进行一次临床评估，包括布鲁克评分、运动功能测量（MFM）、握力和关键捏力以及上肢远端协调和耐力（MoviPlate），每年进行一次脂肪分数（FF）和瘦肌横截面积（屈肌和伸肌）的定量MRI。在整个人群中，结果指标之间存在很强的非线性相关性。在卧床患者中，采用高灵敏度标准反应均值（|SRM| ≥0.8），用于定量基于MRI的FF、手柄和钥匙夹以及MFM。表现出FF 27%的男孩<20% and a grip strength >能够将玻璃杯送到嘴边，并在接下来的3年中保持这种能力。握力>35%预测值和FF <10%的患者3年后仍保持截肢。我们证明，上肢力量、功能和MRI测量的肌肉结构的持续下降可以在患有DMD的行走和非行走男孩中可靠地测量，具有高SRM和结局之间的强相关性。我们的研究结果表明，握力和FF的组合可以用来预测重要的运动里程碑。
To understand the natural disease upper limb progression over 3 years of ambulatory and non‐ambulatory patients with Duchenne muscular dystrophy (DMD) using functional assessments and quantitative magnetic resonance imaging (MRI) and to exploratively identify prognostic factors. Forty boys with DMD (22 non‐ambulatory and 18 ambulatory) with deletions in dystrophin that make them eligible for exon 53‐skipping therapy were included. Clinical assessments, including Brooke score, motor function measure (MFM), hand grip and key pinch strength, and upper limb distal coordination and endurance (MoviPlate), were performed every 6 months and quantitative MRI of fat fraction (FF) and lean muscle cross sectional area (flexor and extensor muscles) were performed yearly. In the whole population, there were strong nonlinear correlations between outcome measures. In non‐ambulatory patients, annual changes over the course of 3 years were detected with high sensitivity standard response mean (|SRM| ≥0.8) for quantitative MRI‐based FF, hand grip and key pinch, and MFM. Boys who presented with a FF<20% and a grip strength >27% were able to bring a glass to their mouth and retained this ability in the following 3 years. Ambulatory patients with grip strength >35% of predicted value and FF <10% retained ambulation 3 years later. We demonstrate that continuous decline in upper limb strength, function, and MRI measured muscle structure can be reliably measured in ambulatory and non‐ambulatory boys with DMD with high SRM and strong correlations between outcomes. Our results suggest that a combination of grip strength and FF can be used to predict important motor milestones.
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影响因子：
3.7
作者：
Pane, Marika;Coratti, Giorgia;Mercuri, Eugenio
通讯作者：
Mercuri, Eugenio
影响因子：
3.4
作者：
Connolly, Anne M.;Florence, Julaine M.;Miller, J. Philip
通讯作者：
Miller, J. Philip
影响因子：
3.7
作者：
Le Moing AG;Seferian AM;Moraux A;Annoussamy M;Dorveaux E;Gasnier E;Hogrel JY;Voit T;Vissière D;Servais L
通讯作者：
Servais L
影响因子：
1.4
作者：
Silva, Elaine C. da;Machado, Darlene L.;Reed, Umbertina C.
通讯作者：
Reed, Umbertina C.
影响因子：
1.8
作者：
Demir, G.;Bulut, N.;Alemdaroglu-Gurbuz, I
通讯作者：
Alemdaroglu-Gurbuz, I