Stübgen Joerg-Patrick, Schultz Cedric
Department of Neurology, University of Pretoria, Pretoria, South Africa.
Muscle Nerve. 2009 Jun;39(6):729-34. doi: 10.1002/mus.21261.
Pulmonary dysfunction is not a well-recognized feature of facioscapulohumeral muscular dystrophy (FSHD). The aim of this study was to establish the prevalence and type of pulmonary and respiratory muscle dysfunction in FSHD. Sixteen patients with moderately advanced FSHD and 16 healthy controls were evaluated. Standard lung and respiratory muscle function tests were performed. Diaphragm muscle inspiratory action was evaluated with transdiaphragmatic pressure measurements. Lung function tests showed an increased residual volume in five patients. There was a significant difference in global respiratory muscle function in patients versus controls; weakness was mild, and it affected expiratory more than inspiratory muscles. There was no significant difference in the diaphragm inspiratory action of patients versus controls. The dystrophic process that underlies FSHD did not significantly involve the muscles of the diaphragm, but it caused mild global respiratory muscle weakness that affected expiratory more than inspiratory muscles. It is probably not necessary to routinely monitor respiratory muscle function in ambulant FSHD patients who lack symptoms or signs of respiratory impairment.
肺功能障碍并非面肩肱型肌营养不良症（FSHD）的一个广为人知的特征。本研究的目的是确定FSHD中肺和呼吸肌功能障碍的患病率及类型。对16例中度晚期FSHD患者和16名健康对照者进行了评估。进行了标准的肺和呼吸肌功能测试。通过跨膈压测量评估膈肌吸气动作。肺功能测试显示5例患者残气量增加。患者与对照者的整体呼吸肌功能存在显著差异；肌无力程度较轻，且对呼气肌的影响大于吸气肌。患者与对照者的膈肌吸气动作无显著差异。FSHD潜在的营养不良过程并未显著累及膈肌，但导致了轻度的整体呼吸肌无力，对呼气肌的影响大于吸气肌。对于没有呼吸功能损害症状或体征的FSHD门诊患者，可能没有必要常规监测呼吸肌功能。
