Mitochondrial disease heterogeneity: a prognostic challenge

Maurizio Moggio 1 , Irene Colombo 1 , Lorenzo Peverelli 1 , Luisa Villa 1 , Rubjona Xhani 1 , Silvia Testolin 1 , Salvatore Di Mauro 2 , Monica Sciacco 1

1 UOD Malattie Neuromuscolari e Rare, Fondazione IRCCS Ca’ Granda, Ospedale Maggiore Policlinico, Centro Dino Ferrari, Università degli Studi di Milano, Milan, Italy; 2 Department of Neurology, Columbia University Medical Center, New York, New York, USA

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.

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