Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies
Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies
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DOI：
10.1212/wnl.0b013e3181ea1564
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发表时间：
2010-07-27
期刊：
影响因子：
9.9
通讯作者：
Illa, I.
中科院分区：
文献类型：
--
作者：
Paradas, C.;Llauger, J.;Illa, I.
背景： dysferlin肌病最常见的表型是肢带型肌营养不良2B型（LGMD2B）和三好肌病（MM）。我们的目的是寻找临床或磁共振成像（MRI）标志物，以便在不考虑初始症状的情况下区分dysferlin肌病的表型。
方法：这项回顾性研究纳入了29例经证实DYSF基因存在突变的患者（14例MM，12例LGMD2B，1例无症状性高肌酸激酶血症，2例有症状的携带者）。所有患者均接受年度临床检查（医学研究委员会量表）、功能状态评估以及肌酸激酶、肺部和心脏检查。出于研究目的，我们对所有29例患者进行了下肢MRI研究，以确定肌肉损伤的模式并量化受累情况。确定了MRI表现与表型、病程和功能状态之间的统计学相关性。
结果：平均临床随访时间为6.4±5.7年。MM患者和LGMD2B患者在进展速度、功能预后或突变方面未发现显著差异。MM患者和LGMD2B患者的肌肉受累MRI模式相同。在这两种表型中，大收肌和内侧腓肠肌最先受累。肌肉受累的进展与临床状态相关。
结论：将dysferlin肌病分为不同的表型在进展速度、预后、基因型或MRI模式方面未显示出显著差异。MM和LGMD2B在发病时MRI中近端和远端肌肉均已受累这一发现，支持将所有表型归为dysferlin肌病这一术语下。《神经病学》2010年；75:316 - 323
Background: The most frequent phenotypes of dysferlin myopathy are limb-girdle muscular dystrophy 2B (LGMD2B) and Miyoshi myopathy (MM). Our objective was to find clinical or MRI markers to differentiate phenotypes of dysferlin myopathy regardless of initial symptoms.Methods: This retrospective study included 29 patients with confirmed mutations in the DYSF gene (14 MM, 12 LGMD2B, 1 asymptomatic hyperCKemia, and 2 symptomatic carriers). All underwent an annual clinical examination (Medical Research Council scale), functional status assessment, and creatine kinase, pulmonary, and cardiac testing. For research purposes, we performed lower limb MRI studies in all 29 patients to identify the pattern of muscle impairment and to quantify involvement. Statistical correlations between MRI findings and phenotype, disease duration, and functional status were determined.Results: The mean clinical follow-up was 6.4 +/- 5.7 years. No significant differences were found in the rate of progression, functional prognosis, or mutations between patients with MM and patients with LGMD2B. The MRI pattern of muscle involvement was the same for patients with MM and patients with LGMD2B. The adductor magnus and gastrocnemius medialis were the first to be impaired in both phenotypes. The progression of muscle involvement correlated with clinical status.Conclusions: Splitting dysferlin myopathy into separate phenotypes does not reveal significant differences in terms of rate of progression, prognosis, genotype, or MRI pattern. The finding that proximal and distal muscles are already impaired in the MRI at onset in both MM and LGMD2B favors grouping all phenotypes under the term dysferlin myopathy. Neurology (R) 2010;75:316-323