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Nerve and muscle involvement in mitochondrial disorders: an electrophysiological study

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Abstract

Involvement of the peripheral nervous system in mitochondrial disorders (MD) has been previously reported. However, the exact prevalence of peripheral neuropathy and/or myopathy in MD is still unclear. In order to evaluate the prevalence of neuropathy and myopathy in MD, we performed sensory and motor nerve conduction studies (NCS) and concentric needle electromyography (EMG) in 44 unselected MD patients. NCS were abnormal in 36.4% of cases, and were consistent with a sensori-motor axonal multineuropathy (multifocal neuropathy), mainly affecting the lower limbs. EMG evidence of myopathy was present in 54.5% of patients, again mainly affecting the lower limbs. Nerve and muscle involvement was frequently subclinical. Peripheral nerve and muscle involvement is common in MD patients. Our study supports the variability of the clinical expression of MD. Further studies are needed to better understand the molecular basis underlying the phenotypic variability among MD patients.

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Acknowledgments

The authors are very grateful to Paola Angiolini and Andrea Bruni for their technical assistance. This study was partly supported by Telethon Grant GUP09004.

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Authors and Affiliations

  1. Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126, Pisa, Italy

    Michelangelo Mancuso, Selina Piazza, Leda Volpi, Daniele Orsucci, Valeria Calsolaro, Elena Caldarazzo Ienco, Cecilia Carlesi, Anna Rocchi, Lucia Petrozzi, Rosanna Calabrese & Gabriele Siciliano

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  1. Michelangelo Mancuso
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  2. Selina Piazza
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  3. Leda Volpi
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  4. Daniele Orsucci
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  5. Valeria Calsolaro
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  6. Elena Caldarazzo Ienco
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  7. Cecilia Carlesi
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  8. Anna Rocchi
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  9. Lucia Petrozzi
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  10. Rosanna Calabrese
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  11. Gabriele Siciliano
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Correspondence to Michelangelo Mancuso.

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Mancuso, M., Piazza, S., Volpi, L. et al. Nerve and muscle involvement in mitochondrial disorders: an electrophysiological study. Neurol Sci 33, 449–452 (2012). https://doi.org/10.1007/s10072-011-0703-4

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  • DOI: https://doi.org/10.1007/s10072-011-0703-4

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