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

Massimiliano Filosto, 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

Research output: Contribution to journalReview article

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.

Original languageEnglish
JournalJournal of Neurology
DOIs
Publication statusPublished - Jan 1 2019

Keywords

  • cPEO
  • Mitochondrial diseases
  • Mitochondrial myopathy
  • Muscle pain
  • Myalgia

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Fingerprint Dive into the research topics of 'Muscle pain in mitochondrial diseases: a picture from the Italian network'. Together they form a unique fingerprint.

  • Cite this

    Filosto, M., Cotti Piccinelli, S., Lamperti, C., Mongini, T., Servidei, S., Musumeci, O., Tonin, P., Santorelli, F. M., Simoncini, C., Primiano, G., Vercelli, L., Rubegni, A., Galvagni, A., Moggio, M., Comi, G. P., Carelli, V., Toscano, A., Padovani, A., Siciliano, G., & Mancuso, M. (2019). Muscle pain in mitochondrial diseases: a picture from the Italian network. Journal of Neurology. https://doi.org/10.1007/s00415-019-09219-x