Clinical Description and Roentgenologic Evaluation of Patients with Friedreich's Ataxia
Clinical Description and Roentgenologic Evaluation of Patients with Friedreich's Ataxia
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弗里德赖希共济失调患者的临床描述和 X 线学评估
DOI：
10.1017/s0317167100025464
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发表时间：
1976
期刊：
影响因子：
--
通讯作者：
J. Bouchard
中科院分区：
文献类型：
--
作者：
G. Geoffroy;A. Barbeau;G. Breton;B. Lemieux;M. Aubé;C. Leger;J. Bouchard
摘要：本次调查的50例患者由一组神经学家分为4个临床亚组：la组（“典型”弗里德赖希共济失调，全图），lb组（“典型”弗里德赖希共济失调，全图），Ila组（“非典型”弗里德赖希共济失调，可能是隐性鲁西-列维综合征），lib组（异质性共济失调）。分析各组患者的临床症状和体征。一星座的迹象不断出现在弗里德赖希的共济失调和义务诊断被描述。其他重要症状，如巴宾斯基征、脊柱后凸和足弓足是进行性的，但在任何时候都不是诊断的必要条件。最后，许多其他症状只能称为附属症状。脊柱侧凸的进展被认为是鉴别共济失调的重要工具。我们的研究还表明，与一些作者的观点相反，下肢深层肌腱反射缺失和早期构音障碍是“典型”弗里德赖希共济失调的必要条件。
SUMMARY: The 50 patients in this survey were classified by a panel of neurologists into 4 clinical sub-groups: Group la (“typical” Friedreich's ataxia, complete picture), Group lb (“typical” Friedreich's ataxia, incomplete picture), Group Ila (“atypical” Friedreich's ataxia, possible recessive Roussy-Levy syndrome), Group lib (heterogeneous ataxias). The clinical symptoms and signs were analyzed for each of these groups. A constellation of signs constantly present in Friedreich's ataxia and obligatory for diagnosis was described. Other important symptoms, such as the Babinski sign, kyphoscoliosis and pes cavus were found to be progressive, but not essential for the diagnosis at any given time. Finally, a host of other symptoms can only be called accessory. The progression of scoliosis was found to be an important tool in the differential diagnosis of ataxias. Our study also indicates, in contrast to the opinion of some authors, that absent deep tendon reflexes in the lower limbs and early dysarthria are essential in “typical” Friedreich's ataxia.