Arthrogryposis Multiplex Congenita
Mirna Lechpammer
Abstract
Mirna Lechpammer
Abstract
Arthrogryposis multiplex congenita (AMC), or arthrogryposis, and multiple congenital contractures (MCC) are equivalent terms used to describe a phenotypic condition associated with multiple congenital non-progressive contractures in three or more body sites. Arthrogryposis is not a single disease but rather a clinical feature associated with more than 300 conditions [1]. The contractures develop secondary to fetal akinesia, i.e., in utero movement limitation, of varying etiology: muscle and/or neuronal pathology, connective tissue abnormalities, external limitations of in utero space, maternal diseases or exposures, compromised blood supply of placenta and/or fetus, metabolic disorders, and epigenetic influence. Children are born immobilized with fixed and thickened joints and decreased muscle mass. Early medical care may improve the condition over time [1, 2].
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Arthrogryposis multiplex congenita (AMC), or arthrogryposis, and multiple congenital contractures (MCC) are equivalent terms used to describe a phenotypic condition associated with multiple congenital non-progressive contractures in three or more body sites. Arthrogryposis is not a single disease but rather a clinical feature associated with more than 300 conditions [1]. The contractures develop secondary to fetal akinesia, i.e., in utero movement limitation, of varying etiology: muscle and/or neuronal pathology, connective tissue abnormalities, external limitations of in utero space, maternal diseases or exposures, compromised blood supply of placenta and/or fetus, metabolic disorders, and epigenetic influence. Children are born immobilized with fixed and thickened joints and decreased muscle mass. Early medical care may improve the condition over time [1, 2].
Key concepts: Arthrogryposis multiplex congenita, Arthrogryposis, Muscle contracture, In utero, Medicine, Fetus, Etiology, Fetal movement