Department of Neurology, Huashan Hospital and Fudan University, Shanghai 200040, China.
Department of Radiology, Jing'an District Center Hospital of Shanghai, Shanghai, China.
Muscle Nerve. 2018 Oct;58(4):536-541. doi: 10.1002/mus.26169. Epub 2018 Sep 3.
Limb-girdle muscular dystrophy type 2A (LGMD2A) is characterized by progressive wasting of muscles for which the disease-monitoring tools are still deficient.
We performed muscle MRI of the lower limbs in 32 LGMD2A patients and 21 controls. The modified Mercuri scale was employed to evaluate the degree of fatty infiltration.
Severe fatty infiltration in the long head of biceps femoris (modified Mercuri scale 3.99) and sparing of extensor digitorum longus (modified Mercuri scale 0.17) were observed. The sensitivity and specificity of this pattern in diagnostic testing was 76.00% and 90.48%, respectively. A comprehensive clinical and MRI evaluation revealed that progressive fatty infiltration in the upper leg correlated well with disease progression, but neither calf involvement nor muscle strength deterioration showed a good correlation.
The selective involvement pattern is potentially useful for LGMD2A diagnosis. Upper leg muscle MRI is a sensitive evaluation method for monitoring disease progression. Muscle Nerve 58: 536-541, 2018.
肢带型肌营养不良 2A 型（LGMD2A）的特征是肌肉进行性消瘦，目前仍缺乏疾病监测工具。
我们对 32 名 LGMD2A 患者和 21 名对照者进行了下肢肌肉 MRI 检查。采用改良 Mercuri 量表评估脂肪浸润程度。
观察到股二头肌长头（改良 Mercuri 量表 3.99）严重脂肪浸润和伸趾长肌（改良 Mercuri 量表 0.17）保留。这种模式在诊断测试中的灵敏度和特异性分别为 76.00%和 90.48%。全面的临床和 MRI 评估显示，大腿上部进行性脂肪浸润与疾病进展密切相关，但小腿受累和肌肉力量恶化均与疾病进展无明显相关性。
这种选择性受累模式可能有助于 LGMD2A 的诊断。大腿部肌肉 MRI 是监测疾病进展的敏感评估方法。《神经肌肉疾病》58：536-541，2018。
