Pisani Francesco, Carboni Pasquale
Child Neuropsychiatric Unit, Pediatrics Department, University of Parma, Parma, Italy.
Acta Biomed. 2005 Dec;76(3):171-4.
Since hypotonia is the phenotype of several clinical conditions that do not always lead to a favorable outcome, prompt diagnosis is important. Congenital Hypotonia with Favorable Outcome (CHFO), an underestimated condition, should be rapidly differentiated from other more serious hypotonic states by means of simple, effective and only slightly invasive instrumental diagnostic examinations.
We analyzed the electromyographic data of a group of patients with CHFO and compared them with data taken from their muscle biopsies to evidence the utility of the electromyographic study (EMG) in this condition.
We performed EMG, nerve conduction study (NCS) and muscle biopsy on 41 subjects with a diagnosis of CHFO (age range 9 months to 12 years, mean age, 6.7 years).
No specific EMG findings were observed. Muscle biopsy was normal in all subjects, and we obtained concordance between biopsy and EMG in 85% of the subjects (35/41).
A normal EMG examination helps investigators to exclude several neurological diseases characterized by hypotonia and it can provide valuable complementary information to confirm the clinical diagnosis of CHFO.
由于肌张力减退是几种临床病症的表现型，而这些病症并不总是会带来良好的预后，因此及时诊断至关重要。具有良好预后的先天性肌张力减退（CHFO）是一种未得到充分认识的病症，应通过简单、有效且侵入性较小的仪器诊断检查，迅速将其与其他更严重的低张状态区分开来。
我们分析了一组CHFO患者的肌电图数据，并将其与肌肉活检数据进行比较，以证明肌电图研究（EMG）在这种病症中的实用性。
我们对41例诊断为CHFO的受试者（年龄范围为9个月至12岁，平均年龄6.7岁）进行了肌电图、神经传导研究（NCS）和肌肉活检。
未观察到特定的肌电图表现。所有受试者的肌肉活检均正常，85%的受试者（35/41）活检结果与肌电图结果一致。
正常的肌电图检查有助于研究人员排除几种以肌张力减退为特征的神经系统疾病，并且可为确诊CHFO的临床诊断提供有价值的补充信息。
