Peripheral muscle weakness in RASopathies.
Muscle Nerve
; 46(3): 394-9, 2012 Sep.
Article
em En
| MEDLINE
| ID: mdl-22907230
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Displasia Ectodérmica
/
Neurofibromatose 1
/
Proteínas ras
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Força da Mão
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Debilidade Muscular
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Insuficiência de Crescimento
/
Síndrome de Costello
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Cardiopatias Congênitas
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Síndrome de Noonan
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
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Adult
/
Child
/
Child, preschool
/
Female
/
Humans
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Male
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Middle aged
Idioma:
En
Ano de publicação:
2012
Tipo de documento:
Article