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Muscle Nerve. 2012 Sep;46(3):394-9. doi: 10.1002/mus.23324.

Peripheral muscle weakness in RASopathies.

Author information

  • 1University of Utah, Division of Medical Genetics, 2C412 SOM, Salt Lake City, Utah 84132, USA. david.stevenson@hsc.utah.edu

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.

Copyright © 2012 Wiley Periodicals, Inc.

PMID:
22907230
[PubMed - indexed for MEDLINE]
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