Peripheral muscle weakness in RASopathies

David A. Stevenson, Shawn Allen, William E. Tidyman, John C. Carey, David H. Viskochil, Austin Stevens, Heather Hanson, Xiaoming Sheng, Brandi A. Thompson, Megumi J. Okumura, Kent Reinker, Barbara Johnson, Katherine A Rauen

Research output: Contribution to journalArticle

21 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)394-399
Number of pages6
JournalMuscle and Nerve
Volume46
Issue number3
DOIs
StatePublished - Sep 2012
Externally publishedYes

Keywords

  • Cardiofaciocutaneous syndrome
  • Costello syndrome
  • Muscle force
  • Neurofibromatosis
  • Noonan syndrome
  • RASopathy

ASJC Scopus subject areas

  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)
  • Physiology

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  • Cite this

    Stevenson, D. A., Allen, S., Tidyman, W. E., Carey, J. C., Viskochil, D. H., Stevens, A., Hanson, H., Sheng, X., Thompson, B. A., J. Okumura, M., Reinker, K., Johnson, B., & Rauen, K. A. (2012). Peripheral muscle weakness in RASopathies. Muscle and Nerve, 46(3), 394-399. https://doi.org/10.1002/mus.23324