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骨科诊所中杜氏肌营养不良症诊断的延迟。

Delay in diagnosing Duchenne muscular dystrophy in orthopaedic clinics.

作者信息

Read L, Galasko C S

出版信息

J Bone Joint Surg Br. 1986 May;68(3):481-2. doi: 10.1302/0301-620X.68B3.3733820.

DOI:10.1302/0301-620X.68B3.3733820
PMID:3733820
Abstract

For clinical, psychological and social reasons the diagnosis of Duchenne muscular dystrophy should be established as early as possible. In a survey of 83 families with 93 affected boys, the diagnosis was missed in every case referred to an orthopaedic surgeon (37 patients). In the whole group there was a mean delay of 2.0 years (0 to 6 years) during which time inappropriate treatment, difficulties in communication with parents, much parental anxiety and further pregnancies occurred. A serum creatine kinase estimation is a simple outpatient test which should be carried out on any boy with clumsy or abnormal gait, with flat feet or with an unexplained equinus deformity.

摘要

出于临床、心理和社会原因,杜氏肌营养不良症的诊断应尽早确立。在一项对83个家庭中93名患病男孩的调查中,转诊至骨科医生处的每一例患者(37例)均被漏诊。在整个群体中,平均延误时间为2.0年(0至6年),在此期间出现了不恰当的治疗、与家长沟通困难、家长焦虑以及再次怀孕等情况。血清肌酸激酶测定是一项简单的门诊检查,应对任何步态笨拙或异常、扁平足或有不明原因马蹄足畸形的男孩进行此项检查。

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Delay in diagnosing Duchenne muscular dystrophy in orthopaedic clinics.骨科诊所中杜氏肌营养不良症诊断的延迟。
J Bone Joint Surg Br. 1986 May;68(3):481-2. doi: 10.1302/0301-620X.68B3.3733820.
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Duchenne's muscular dystrophy in six siblings. The case for early diagnosis and neonatal screening.六名兄弟姐妹患杜氏肌营养不良症。早期诊断和新生儿筛查的情况
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Early diagnosis and secondary prevention of Duchenne muscular dystrophy.杜氏肌营养不良症的早期诊断与二级预防
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Duchenne muscular dystrophy: early diagnosis, and screening.杜氏肌营养不良症:早期诊断与筛查
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[Screening for elevated creatine kinase activities for the early diagnosis of Duchenne muscular dystrophy].[通过筛查肌酸激酶活性升高进行杜氏肌营养不良症的早期诊断]
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Trendelenburg-Like Gait, Instability and Altered Step Patterns in a Mouse Model for Limb Girdle Muscular Dystrophy 2i.肢带型肌营养不良2i小鼠模型中的类Trendelenburg步态、不稳定性及步幅模式改变
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A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy.
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Evidence based case report: Assessing developmental delay.循证病例报告:评估发育迟缓
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