Ramelli Gian Paolo, Herrmann U, Lütschg J
Servizio Cantonale di Neuropediatria, Ospedale Regionale Bellinzona e Valli, Bellinzona.
Praxis (Bern 1994). 2010 Jun 23;99(13):785-92. doi: 10.1024/1661-8157/a000172.
The group of neuromuscular disorders includes disorders of the motor neurons in the medulla oblongata and myelon, the peripheral nerves, the neuromuscular junction, and of the muscle. Clinical manifestation varies from pre-/perinatal to adulthood. The prevalence of all neuromuscular disorders is about 1:1500. In the last years, knowledge of genetic defects in neuromuscular disorders has dramatically increased. This is due to an increase in knowledge of the underlying genetic defects. Hence the classification of the neuromuscular disorders is still changing. In clinical practice the history and the clinical examination of patients with suspected NMDs is very important in the correct selection of the necessary investigations. Many investigations are possible, but should be chosen according to the patient's symptoms. Careful interpretation of the results most often defines diagnosis. The aim of this article is to establish a work-up according to the patient's symptoms and problems in childhood.
神经肌肉疾病组包括延髓和脊髓中的运动神经元、周围神经、神经肌肉接头以及肌肉的疾病。临床表现从产前/围产期到成年期各不相同。所有神经肌肉疾病的患病率约为1:1500。在过去几年中，对神经肌肉疾病遗传缺陷的认识有了显著增加。这是由于对潜在遗传缺陷的认识有所增加。因此，神经肌肉疾病的分类仍在变化。在临床实践中，对疑似神经肌肉疾病患者的病史和临床检查对于正确选择必要的检查非常重要。有许多检查可供选择，但应根据患者的症状进行选择。对结果的仔细解读通常能明确诊断。本文的目的是根据儿童患者的症状和问题制定一套检查方法。
