Muscle pain in mitochondrial diseases: a picture from the Italian network
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.
KeywordsMitochondrial diseases Muscle pain Myalgia cPEO Mitochondrial myopathy
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.
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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