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.
journal_name
Muscle Nervejournal_title
Muscle & nerveauthors
Stevenson DA,Allen S,Tidyman WE,Carey JC,Viskochil DH,Stevens A,Hanson H,Sheng X,Thompson BA,Okumura MJ,Reinker K,Johnson B,Rauen KAdoi
10.1002/mus.23324subject
Has Abstractpub_date
2012-09-01 00:00:00pages
394-9issue
3eissn
0148-639Xissn
1097-4598journal_volume
46pub_type
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