Nerve and muscle involvement in mitochondrial disorders: an electrophysiological study

作者：Mancuso Michelangelo^*; Piazza Selina; Volpi Leda; Orsucci Daniele; Calsolaro Valeria; Ienco Elena Caldarazzo; Carlesi Cecilia; Rocchi Anna; Petrozzi Lucia; Calabrese Rosanna; Siciliano Gabriele

来源：Neurological Sciences, 2012, 33(2): 449-452.

DOI：10.1007/s10072-011-0703-4

• Electromyography
• Nerve conduction studies
• Mitochondrial diseases
• Mitochondrial myopathy
• mtDNA
• Neuropathies

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.

• 出版日期2012-4