Nerve and muscle involvement in mitochondrial disorders: an electrophysiological study

被引：14

作者：

Mancuso, Michelangelo ^{[1
]}

Piazza, Selina ^{[1
]}

Volpi, Leda ^{[1
]}

Orsucci, Daniele ^{[1
]}

Calsolaro, Valeria ^{[1
]}

Ienco, Elena Caldarazzo ^{[1
]}

Carlesi, Cecilia ^{[1
]}

Rocchi, Anna ^{[1
]}

Petrozzi, Lucia ^{[1
]}

Calabrese, Rosanna ^{[1
]}

Siciliano, Gabriele ^{[1
]}

机构：

[1] Univ Pisa, Dept Neurosci, Neurol Clin, I-56126 Pisa, Italy

来源：

NEUROLOGICAL SCIENCES | 2012年 / 33卷 / 02期

关键词：

Electromyography; Nerve conduction studies; Mitochondrial diseases; Mitochondrial myopathy; mtDNA; Neuropathies; PERIPHERAL NEUROPATHY; DISEASE; ADULTS; DNA;

D O I：

10.1007/s10072-011-0703-4

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

摘要：

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.

引用

页码：449 / 452

页数：4

共 10 条

[1]

Diagnostic criteria for respiratory chain disorders in adults and children [J].