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J Neurol. 2019 Feb 2. doi: 10.1007/s00415-019-09219-x. [Epub ahead of print]

Muscle pain in mitochondrial diseases: a picture from the Italian network.

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Center for Neuromuscular Diseases, Unit of Neurology, ASST Spedali Civili and University of Brescia, Brescia, Italy.
Center for Neuromuscular Diseases, Unit of Neurology, ASST Spedali Civili and University of Brescia, Brescia, Italy.
Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Milan, Italy.
Department of Neurosciences Rita Levi Montalcini, University of Torino, Torino, Italy.
UOC Neurofisiopatologia Fondazione Policlinico Universitario A. Gemelli IRCCS, Istituto di Neurologia Università Cattolica del Sacro Cuore, Roma, Italy.
Department of Clinical and Experimental Medicine, UOC di Neurologia e Malattie Neuromuscolari, University of Messina, Messina, Italy.
Neurological Clinic, University of Verona, Verona, Italy.
Unit of Molecular Medicine, IRCCS Foundation Stella Maris, Pisa, Italy.
Neurological Clinic, University of Pisa, Pisa, Italy.
Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
Neurology Unit, Neuroscience Section, Department of Pathophysiology and Transplantation, Dino Ferrari Centre, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy.


Muscle pain may be part of many neuromuscular disorders including myopathies, peripheral neuropathies and lower motor neuron diseases. Although it has been reported also in mitochondrial diseases (MD), no extensive studies in this group of diseases have been performed so far. We reviewed clinical data from 1398 patients affected with mitochondrial diseases listed in the database of the "Nation-wide Italian Collaborative Network of Mitochondrial Diseases", to assess muscle pain and its features. Muscle pain was present in 164 patients (11.7%). It was commonly observed in subjects with chronic progressive external ophthalmoplegia (cPEO) and with primary myopathy without cPEO, but also-although less frequently-in multisystem phenotypes such as MELAS, MERFF, Kearns Sayre syndrome, NARP, MNGIE and Leigh syndrome. Patients mainly complain of diffuse exercise-related muscle pain, but focal/multifocal and at rest myalgia were often also reported. Muscle pain was more commonly detected in patients with mitochondrial DNA mutations (67.8%) than with nuclear DNA changes (32.2%). Only 34% of the patients showed a good response to drug therapy. Interestingly, patients with nuclear DNA mutations tend to have a better therapeutic response than patients with mtDNA mutations. Muscle pain is present in a significant number of patients with MD, being one of the most common symptoms. Although patients with a myopathic phenotype are more prone to develop muscle pain, this is also observed in patients with a multi system involvement, representing an important and disabling symptom having poor response to current therapy.


Mitochondrial diseases; Mitochondrial myopathy; Muscle pain; Myalgia; cPEO


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