Department of Paediatric Neurology, Red Cross Children's Hospital, Kilpfontein Road, Rondebosch, Cape Town, Western Cape 7700, South Africa.
Neuromuscul Disord. 2011 Nov;21(11):763-75. doi: 10.1016/j.nmd.2011.05.013. Epub 2011 Jul 7.
This review focuses on the "pure" hereditary peripheral neuropathies where peripheral nerve disease is the main manifestation and does not address neurodegenerative disorders associated with but not dominated by peripheral neuropathy. Aetiologies of childhood-onset peripheral neuropathies differ from those of adult-onset, with more inherited conditions, especially autosomal recessive. Charcot-Marie-Tooth disease is the commonest neuromuscular disorder. The genetic labels of CMT (Charcot-Marie-Tooth) disease types 1-4 are the preferred sub-type terms. Clinical presentations and molecular genetic heterogeneity of hereditary peripheral neuropathies are diverse. For most patients worldwide, diagnostic studies are limited to clinical assessment. Such markers which could be used to identify specific sub-types include presentation in early childhood, scoliosis, marked sensory involvement, respiratory compromise, upper limb involvement, visual or hearing impairment, pyramidal signs and mental retardation. These key markers may assist targeted genetic testing and aid in diagnosing children where DNA testing is not possible.
这篇综述专注于“纯”遗传性周围神经病，其中周围神经疾病是主要表现，不涉及与周围神经病相关但不以其为主的神经退行性疾病。儿童发病的周围神经病的病因与成人发病不同，遗传性疾病更多，尤其是常染色体隐性遗传疾病。Charcot-Marie-Tooth 病是最常见的神经肌肉疾病。CMT（Charcot-Marie-Tooth）病 1-4 型的遗传标签是首选的亚型术语。遗传性周围神经病的临床表现和分子遗传异质性多种多样。对于世界上大多数患者，诊断研究仅限于临床评估。可用于识别特定亚型的标志物包括：儿童早期发病、脊柱侧凸、明显的感觉受累、呼吸功能受损、上肢受累、视力或听力障碍、锥体束征和智力迟钝。这些关键标志物可能有助于针对特定亚型的基因检测，并有助于诊断那些无法进行 DNA 检测的儿童。
