Moggio Maurizio, Colombo Irene, Peverelli Lorenzo, Villa Luisa, Xhani Rubjona, Testolin Silvia, Di Mauro Salvatore, Sciacco Monica
UOD Malattie Neuromuscolari e Rare, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Centro Dino Ferrari, Università degli Studi di Milano, Milan, Italy;
Department of Neurology, Columbia University Medical Center, New York, New York, USA.
Acta Myol. 2014 Oct;33(2):86-93.
Mitochondrial diseases are a heterogeneous group of progressive, genetically transmitted, multisystem disorders caused by impaired mitochondrial function. The disease course for individuals with mitochondrial myopathies varies greatly from patient to patient because disease progression largely depends on the type of disease and on the degree of involvement of various organs which makes the prognosis unpredictable both within the same family and among families with the same mutation. This is particularly, but not exclusively, true for mitochondrial disorders caused by mtDNA point mutations, which are maternally inherited and subject to the randomness of the heteroplasmy. For this reason, the prognosis cannot be given by single mitochondrial disease, but should be formulated by any single mitochondrial disease-related event or complication keeping in mind that early recognition and treatment of symptoms are crucial for the prognosis. The following approach can help prevent severe organ dysfunctions or at least allow early diagnosis and treatment of disease-related complications.
线粒体疾病是一组由线粒体功能受损引起的异质性、进行性、遗传性多系统疾病。线粒体肌病患者的病程在不同患者之间差异很大，因为疾病进展很大程度上取决于疾病类型以及各个器官的受累程度，这使得同一家族内部以及具有相同突变的不同家族之间的预后都难以预测。对于由线粒体DNA点突变引起的线粒体疾病来说尤其如此（但并非唯一），这些突变通过母系遗传，并且存在异质性的随机性。因此，不能根据单一的线粒体疾病给出预后，而应该根据任何与单一线粒体疾病相关的事件或并发症来制定，同时要记住，症状的早期识别和治疗对预后至关重要。以下方法有助于预防严重的器官功能障碍，或者至少能实现疾病相关并发症的早期诊断和治疗。
