The neuromuscular differential diagnosis of joint hypermobility.

摘要: Joint hypermobility is the defining feature of various inherited connective tissue disorders such as Marfan syndrome and types Ehlers-Danlos these will generally be first conditions to considered by geneticists pediatricians in differential diagnosis a patient presenting with findings. However, several congenital adult-onset myopathies also present joint context often only mild-to-moderate muscle weakness should, therefore, included hypermobility. In fact, on molecular level within both groups represent different ends same spectrum extracellular matrix (ECM) disorders. this review we summarize measures hypermobility, illustrate mechanisms have common, subsequently discuss clinical features of: 1) most common myopathic or other neuromuscular features: syndrome, Loeys-Dietz syndrome; 2) myopathy overlap (muscle disorders), including collagen VI related dystrophies FKBP14 kyphoscoliotic type 3) (congenital) prominent RYR1- SEPN1-related myopathy. The aim assist clinicians recognition