家族性远端自主神经功能障碍
Familial distal dysautonomia.
作者信息
Robinson B, Johnson R, Abernethy D, Holloway L
机构信息
Wellington School of Medicine, Wellington Hospital, New Zealand.
出版信息
J Neurol Neurosurg Psychiatry. 1989 Nov;52(11):1281-5. doi: 10.1136/jnnp.52.11.1281.
A patient is described who presented with painful feet on exercise. He had no evidence of peripheral vascular disease but did have anhidrosis and failure of vasodilatation in the hands and feet suggesting peripheral dysautonomia. Examination of his mother and a cousin and clinical histories of blood relatives suggested that his problem was a severe presentation of a familial distal dysautonomia. In other family members this was represented by dry hands and feet and variable vasomotor symptoms. This condition appeared to be autosomal dominant.
本文描述了一名患者，其在运动时出现足部疼痛。他没有外周血管疾病的证据，但确实存在无汗症以及手足血管舒张功能障碍，提示存在外周自主神经功能异常。对其母亲和一位表亲的检查以及血亲的临床病史表明，他的问题是家族性远端自主神经功能异常的严重表现。在其他家庭成员中，表现为手足干燥以及各种血管舒缩症状。这种疾病似乎是常染色体显性遗传。
Zotero 插件