Peripheral muscle weakness in RASopathies
Copyright policy )Peripheral muscle weakness in RASopathies
AbstractIntroduction: 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. Methods: 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. Results: 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). Conclusions: Handgrip strength is decreased in the RASopathies. The etiology of the reduced muscle force is unknown, but likely multifactorial. Muscle Nerve 46: 394–399, 2012
- University of Utah United States
- Shriners Hospitals for Children - Erie United States
- The University of Texas Health Science Center at Houston United States
- University of California, San Francisco United States
- The University of Texas Health Science Center at San Antonio United States
Adult, Heart Defects, Congenital, Male, Muscle Weakness, Neurofibromatosis 1, Adolescent, Hand Strength, MAP Kinase Signaling System, Costello Syndrome, Noonan Syndrome, Facies, Middle Aged, Failure to Thrive, Ectodermal Dysplasia, Child, Preschool, ras Proteins, Humans, Female, Child, Muscle, Skeletal
Adult, Heart Defects, Congenital, Male, Muscle Weakness, Neurofibromatosis 1, Adolescent, Hand Strength, MAP Kinase Signaling System, Costello Syndrome, Noonan Syndrome, Facies, Middle Aged, Failure to Thrive, Ectodermal Dysplasia, Child, Preschool, ras Proteins, Humans, Female, Child, Muscle, Skeletal
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