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.
Muscle pain in mitochondrial diseases: a picture from the Italian network / M. Filosto, S. Cotti Piccinelli, C. Lamperti, T. Mongini, S. Servidei, O. Musumeci, P. Tonin, F.M. Santorelli, C. Simoncini, G. Primiano, L. Vercelli, A. Rubegni, A. Galvagni, M. Moggio, G.P. Comi, V. Carelli, A. Toscano, A. Padovani, G. Siciliano, M. Mancuso. - In: JOURNAL OF NEUROLOGY. - ISSN 0340-5354. - 266:4(2019 Apr 02), pp. 953-959.
|Titolo:||Muscle pain in mitochondrial diseases: a picture from the Italian network|
|Parole Chiave:||Mitochondrial diseases; Mitochondrial myopathy; Muscle pain; Myalgia; cPEO|
|Settore Scientifico Disciplinare:||Settore MED/26 - Neurologia|
|Data di pubblicazione:||2-apr-2019|
|Data ahead of print / Data di stampa:||2-feb-2019|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.1007/s00415-019-09219-x|
|Appare nelle tipologie:||01 - Articolo su periodico|
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