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遗传性痉挛性截瘫

Hereditary spastic paraplegia.

作者信息

Dennis S C, Green N E

机构信息

Department of Orthopaedics and Rehabilitation, Vanderbilt University Medical Center, Nashville, TN 37232.

出版信息

J Pediatr Orthop. 1988 Jul-Aug;8(4):413-7. doi: 10.1097/01241398-198807000-00006.

DOI:10.1097/01241398-198807000-00006
PMID:3392192
Abstract

Hereditary spastic paraplegia is a genetically transmitted disease that is usually autosomal dominant. Characterized by a slow progression of spastic paraparesis, it is frequently misdiagnosed as cerebral palsy. Our experience consists of six families with a total of 26 affected members. All initial referrals were children with a slowly progressive paraplegia. Each child was noted to have slightly delayed motor milestones, normal intellect, and no history of perinatal cerebral event. Each child was treated when necessary with appropriate tendon lengthenings. Recognition is the key to management. A careful patient and family history will reveal the hereditary nature of the disease and help develop treatment plans.

摘要

遗传性痉挛性截瘫是一种通常为常染色体显性遗传的基因传递性疾病。其特征为痉挛性截瘫进展缓慢,常被误诊为脑瘫。我们有6个家族共26名患者的经验。所有最初转诊的都是患有缓慢进展性截瘫的儿童。每个孩子都有运动发育里程碑略延迟、智力正常且无围产期脑部事件病史的情况。必要时,每个孩子都接受了适当的肌腱延长治疗。认识该病是管理的关键。仔细询问患者及其家族病史将揭示疾病的遗传性,并有助于制定治疗方案。

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引用本文的文献

1
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.遗传性痉挛性截瘫:临床病理特征和新兴分子机制。
Acta Neuropathol. 2013 Sep;126(3):307-28. doi: 10.1007/s00401-013-1115-8. Epub 2013 Jul 30.