Silva Thiago Henrique da, Anequini Isabela Pessa, Fávero Francis Meire, Voos Mariana Callil, Oliveira Acary Souza Bulle, Telles Juliana Aparecida Rhein, Caromano Fátima Aparecida
Departamento de Fisioterapia, Fonoaudiologia e Terapia Ocupacional, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.
Departamento de Neurologia/Neurocirurgia, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
Arq Neuropsiquiatr. 2020 Mar;78(3):143-148. doi: 10.1590/0004-282X20190168. Epub 2020 Feb 3.
Duchenne muscular dystrophy (DMD) usually affects men. However, women are also affected in rare instances. Approximately 8% of female DMD carriers have muscle weakness and cardiomyopathy. The early identification of functional and motor impairments can support clinical decision making.
To investigate the motor and functional impairments of 10 female patients with dystrophinopathy diagnosed with clinical, pathological, genetic and immunohistochemical studies.
A descriptive study of a sample of symptomatic female carriers of DMD mutations. The studied variables were muscular strength and functional performance.
The prevalence was 10/118 (8.4%) symptomatic female carriers. Deletions were found in seven patients. The age of onset of symptoms in female carriers of DMD was quite variable. Pseudohypertrophy of calf muscles, muscular weakness, compensatory movements and longer timed performance on functional tasks were observed in most of the cases. Differently from males with DMD, seven female patients showed asymmetrical muscular weakness. The asymmetric presentation of muscle weakness was frequent and affected posture and functionality in some cases. The functional performance presents greater number of compensatory movements. Time of execution of activities was not a good biomarker of functionality for this population, because it does not change in the same proportion as the number of movement compensations.
Clinical manifestation of asymmetrical muscle weakness and compensatory movements, or both can be found in female carriers of DMD mutations, which can adversely affect posture and functional performance of these patients.
杜兴氏肌营养不良症（DMD）通常影响男性。然而，女性在极少数情况下也会受到影响。大约8%的女性DMD携带者有肌肉无力和心肌病。早期识别功能和运动障碍有助于临床决策。
研究10例经临床、病理、基因和免疫组化研究确诊的肌营养不良蛋白病女性患者的运动和功能障碍。
对DMD突变有症状的女性携带者样本进行描述性研究。研究变量为肌肉力量和功能表现。
患病率为10/118（8.4%）有症状的女性携带者。7例患者发现有缺失。DMD女性携带者的症状发作年龄差异很大。大多数病例观察到小腿肌肉假肥大、肌肉无力、代偿性运动以及功能性任务的完成时间延长。与DMD男性患者不同，7例女性患者表现出不对称性肌肉无力。肌肉无力的不对称表现很常见，在某些情况下会影响姿势和功能。功能表现有更多的代偿性运动。活动执行时间对该人群来说不是一个很好的功能生物标志物，因为它与运动代偿次数的变化比例不同。
DMD突变女性携带者可出现不对称性肌肉无力和代偿性运动的临床表现，或两者兼有，这可能对这些患者的姿势和功能表现产生不利影响。
