Duchenne 型假肥大肌营养不良症患儿主要生活事件及其临床特点分析

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Abstract Objective To analyze the major lifetime events and clinical features in children suffering from Duchenne muscular dystrophy (DMD). Methods Two hundred and two DMD patients were diagnosed. Data of the patients were collected and the natural history of DMD analyzed, including motor, cognitive, heart and respiratory functions.Results Mean age of the patients independent ambulation was (17.50±4.84) years and the onset age was about (3.32±1.87) years. The main reasons for visiting doctors were walking slowly and frequent falls. About 45.1% of patients began their first walking after 18 months old. About 94.5% of patients had gastrocnemius muscle pseudohypertrophy, and 72.2% of patients aged from 5 to 7 years old were Gower’s sign positive. Exon deletion was the most frequent genetic mutation in these patients. 8% of patients demonstrated mental retardation (scores<70). 80 of 136 patients had abnormal electrocardiograms changes, 67 of 142 patients had abnormal electrocardiography changes. The SNIP averaged (60.12±16.96)cm H₂O in the patients aged 5.0 to 12.9 years. Conclusions The natural history of DMD children follows the unvarying rule. They usually manifest delay in learning walk, stair climbing problem, and difficulty in walking after one hour. It is very important to understand the pathological change characteristics of cardio-pulmonary function in DMD children and early diagnosis and prevention in retarding the progress of diseases and improing quality of life of DMD children.

Key words： muscular dystrophy Duchenne lifetime events clinical features

Received: 13 July 2015

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http://journal08.magtechjournal.com/Jwk_wjyx/EN/ OR http://journal08.magtechjournal.com/Jwk_wjyx/EN/Y2016/V27/I2/129

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