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Pes cavus and hereditary neuropathies: when a relationship should be suspected

机译:阴茎韧带和遗传性神经病:何时应怀疑有恋爱关系

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摘要

The hereditary peripheral neuropathies are a clinically and genetically heterogeneous group of diseases of the peripheral nervous system. Foot deformities, including the common pes cavus, but also hammer toes and twisting of the ankle, are frequently present in patients with hereditary peripheral neuropathy, and often represent one of the first signs of the disease. Pes cavus in hereditary peripheral neuropathies is caused by imbalance between the intrinsic muscles of the foot and the muscles of the leg. Accurate clinical evaluation in patients with pes cavus is necessary to exclude or confirm the presence of peripheral neuropathy. Hereditary peripheral neuropathies should be suspected in those cases with bilateral foot deformities, in the presence of family history for pes cavus and/or gait impairment, and in the presence of neurological symptoms or signs, such as distal muscle hypotrophy of limbs. Herein, we review the hereditary peripheral neuropathies in which pes cavus plays a key role as a “spy sign,” discussing the clinical and molecular features of these disorders to highlight the importance of pes cavus as a helpful clinical sign in these rare diseases.
机译:遗传性周围神经病是周围神经系统疾病的临床和遗传异质性组。足部畸形,包括常见的 pes cavus ,还有锤击脚趾和踝部扭曲,常发生于遗传性周围神经病变的患者中,通常代表以下情况的先兆这种病。遗传性周围神经病中的 Pes cavus 是由脚的固有肌肉和腿部肌肉之间的不平衡引起的。对 pes cavus 的患者进行准确的临床评估对于排除或确认周围神经病变的存在是必要的。在双侧足部畸形,存在家族史的 pes cavus 和/或步态障碍的情况下,以及存在神经系统症状或体征的情况下,应怀疑遗传性周围神经病变如四肢远端肌肉萎缩。本文中,我们回顾了 pes cavus 在“间谍体征”中起关键作用的遗传性周围神经病,讨论了这些疾病的临床和分子特征,以强调< em class =“ EmphasisTypeItalic”> pes cavus 作为这些罕见疾病的有用临床体征。

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