[脊髓性肌萎缩症的诊断难点]
[Diagnostic difficulties in spinal muscular atrophy].
作者信息
Araújo Alexandra Prufer de Q-C, Ramos Vivianne Galante, Cabello Pedro Hernán
机构信息
Instituto de Puericultura e Pediatria Martagão Gesteira, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
出版信息
Arq Neuropsiquiatr. 2005 Mar;63(1):145-9. doi: 10.1590/s0004-282x2005000100026. Epub 2005 Apr 13.
OBJECTIVE
To describe the clinical findings of patients with spinal muscular atrophy (SMA) with survival motor neuron (SMN) gene deletion.
METHOD
Descriptive study of SMA cases confirmed with the deletion of the SMN gene. Frequency determination of positive clinical and laboratory revised diagnostic criteria.
RESULTS
All of the 22 included patients had symmetrical muscle weakness, which was diffuse in those with onset of symptoms up to 6 months of age (75 %), and either proximal or predominant in lower limbs in the remaining group (67 %). Fasciculations and atrophy were both frequent findings (82 %). Laboratory tests findings were variable, with a positivity of 57 % for electrophysiology and of 58 % for muscle biopsy.
CONCLUSION
The presence of a deletion in the SMN gene can help to confirm this diagnosis in unclear presentations.
目的
描述存在生存运动神经元（SMN）基因缺失的脊髓性肌萎缩症（SMA）患者的临床特征。
方法
对确诊存在SMN基因缺失的SMA病例进行描述性研究。确定阳性临床及实验室修订诊断标准的频率。
结果
纳入的22例患者均有对称性肌无力，症状出现于6个月龄及以内的患者中肌无力呈弥漫性（75%），其余组患者肌无力以近端为主或主要累及下肢（67%）。肌束震颤和萎缩均为常见表现（82%）。实验室检查结果各异，电生理阳性率为57%，肌肉活检阳性率为58%。
结论
SMN基因缺失有助于在临床表现不明确的情况下确诊本病。
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