University of Utah, Division of Medical Genetics, 2C412 SOM, Salt Lake City, Utah 84132, USA.
Muscle Nerve. 2012 Sep;46(3):394-9. doi: 10.1002/mus.23324.
RASopathies are a group of genetic conditions due to alterations of the Ras/MAPK pathway. Neurocutaneous findings are hallmark features of the RASopathies, but musculoskeletal abnormalities are also frequent. The objective was to evaluate handgrip strength in the RASopathies.
Individuals with RASopathies (e.g., Noonan syndrome, Costello syndrome, cardio-facio-cutaneous [CFC] syndrome, and neurofibromatosis type 1 [NF1]) and healthy controls were evaluated. Two methods of handgrip strength were tested: GRIP-D Takei Hand Grip Dynamometer and the Martin vigorimeter. A general linear model was fitted to compare average strength among the groups, controlling for confounders such as age, gender, height, and weight.
Takei dynamometer: handgrip strength was decreased in each of the syndromes compared with controls. Decreased handgrip strength compared with sibling controls was also seen with the Martin vigorimeter (P < 0.0001).
Handgrip strength is decreased in the RASopathies. The etiology of the reduced muscle force is unknown, but likely multifactorial.
RAS 病是一组由于 Ras/MAPK 通路改变而导致的遗传疾病。神经皮肤表现是 RAS 病的显著特征，但肌肉骨骼异常也很常见。目的是评估 RAS 病患者的握力。
评估了患有 RAS 病（例如，Noonan 综合征、Costello 综合征、心面四肢综合征和神经纤维瘤病 1 型）和健康对照者。测试了两种握力方法：GRIP-D Takei 手持握力测力计和 Martin 握力计。为了控制年龄、性别、身高和体重等混杂因素，拟合了一般线性模型来比较各组的平均力量。
Takei 测力计：与对照组相比，每种综合征的握力都降低了。与兄弟姐妹对照组相比，Martin 握力计也显示握力下降（P<0.0001）。
RAS 病患者的握力下降。肌肉力量下降的病因尚不清楚，但可能是多因素的。
