Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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Peripheral muscle weakness in RASopathies.

INTRODUCTION: 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.[1]

References

Peripheral muscle weakness in RASopathies. Stevenson, D.A., Allen, S., Tidyman, W.E., Carey, J.C., Viskochil, D.H., Stevens, A., Hanson, H., Sheng, X., Thompson, B.A., Okumura, M.J., Reinker, K., Johnson, B., Rauen, K.A. Muscle. Nerve (2012) [Pubmed]

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