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

  • Massimiliano FilostoEmail author
  • Stefano Cotti Piccinelli
  • Costanza Lamperti
  • Tiziana Mongini
  • Serenella Servidei
  • Olimpia Musumeci
  • Paola Tonin
  • Filippo Maria Santorelli
  • Costanza Simoncini
  • Guido Primiano
  • Liliana Vercelli
  • Anna Rubegni
  • Anna Galvagni
  • Maurizio Moggio
  • Giacomo Pietro Comi
  • Valerio Carelli
  • Antonio Toscano
  • Alessandro Padovani
  • Gabriele Siciliano
  • Michelangelo Mancuso
Original Communication

Abstract

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.

Keywords

Mitochondrial diseases Muscle pain Myalgia cPEO Mitochondrial myopathy 

Notes

Acknowledgements

This work was supported by Telethon (Grant numbers GUP09004 and GSP16001) and the patients’ association MITOCON, which also provided the web-platform assistance.

Compliance with ethical standards

Conflicts of interest

The authors declare that they have no conflict of interest.

Ethical standards

All human studies have been approved by the appropriate ethics committee and have been performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments. Specifically, the inclusion of patients in the database was approved by the Ethics Committee of each single center belonging to the network. All persons gave their informed consent to be included in the database of Nation-wide Italian Collaborative Network of Mitochondrial Diseases.

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  • Massimiliano Filosto
    • 1
    Email author
  • Stefano Cotti Piccinelli
    • 1
  • Costanza Lamperti
    • 2
  • Tiziana Mongini
    • 3
  • Serenella Servidei
    • 4
  • Olimpia Musumeci
    • 5
  • Paola Tonin
    • 6
  • Filippo Maria Santorelli
    • 7
  • Costanza Simoncini
    • 8
  • Guido Primiano
    • 4
  • Liliana Vercelli
    • 3
  • Anna Rubegni
    • 7
  • Anna Galvagni
    • 1
  • Maurizio Moggio
    • 9
  • Giacomo Pietro Comi
    • 10
  • Valerio Carelli
    • 11
  • Antonio Toscano
    • 5
  • Alessandro Padovani
    • 1
  • Gabriele Siciliano
    • 8
  • Michelangelo Mancuso
    • 8
  1. 1.Center for Neuromuscular Diseases, Unit of NeurologyASST Spedali Civili and University of BresciaBresciaItaly
  2. 2.Unit of Medical Genetics and NeurogeneticsFondazione IRCCS Istituto Neurologico ‘Carlo Besta’MilanItaly
  3. 3.Department of Neurosciences Rita Levi MontalciniUniversity of TorinoTorinoItaly
  4. 4.UOC Neurofisiopatologia Fondazione Policlinico Universitario A. Gemelli IRCCS, Istituto di Neurologia Università Cattolica del Sacro CuoreRomaItaly
  5. 5.Department of Clinical and Experimental Medicine, UOC di Neurologia e Malattie NeuromuscolariUniversity of MessinaMessinaItaly
  6. 6.Neurological ClinicUniversity of VeronaVeronaItaly
  7. 7.Unit of Molecular MedicineIRCCS Foundation Stella MarisPisaItaly
  8. 8.Neurological ClinicUniversity of PisaPisaItaly
  9. 9.Neuromuscular and Rare Diseases Unit, Department of NeuroscienceFondazione IRCCS Ca’ Granda, Ospedale Maggiore PoliclinicoMilanItaly
  10. 10.Neurology Unit, Neuroscience Section, Department of Pathophysiology and Transplantation, Dino Ferrari Centre, IRCCS Foundation Ca’ Granda Ospedale Maggiore PoliclinicoUniversity of MilanMilanItaly
  11. 11.IRCCS Institute of Neurological Sciences of Bologna, Bellaria HospitalBolognaItaly

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