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Repair of genomic DNA is a fundamental housekeeping process that quietly maintains the health of our genomes. The consequences of a genetic defect affecting a component of this delicate mechanism are quite harmful, characterized by a cascade of premature aging that injures a variety of organs, including the nervous system. One part of the nervous system that is impaired in certain DNA repair disorders is the peripheral nerve. Chronic motor, sensory, and sensorimotor polyneuropathies have all been observed in affected individuals, with specific physiologies associated with different categories of DNA repair disorders. Cockayne syndrome has classically been linked to demyelinating polyneuropathies, whereas xeroderma pigmentosum has long been associated with axonal polyneuropathies. Three additional recessive DNA repair disorders are associated with neuropathies, including trichothiodystrophy, Werner syndrome, and ataxia‐telangiectasia. Although plausible biological explanations exist for why the peripheral nerves are specifically vulnerable to impairments of DNA repair, specific mechanisms such as oxidative stress remain largely unexplored in this context, and bear further study. It is also unclear why different DNA repair disorders manifest with different types of neuropathy, and why neuropathy is not universally present in those diseases. Longitudinal physiological monitoring of these neuropathies with serial electrodiagnostic studies may provide valuable noninvasive outcome data in the context of future natural history studies, and thus the responses of these neuropathies may become sentinel outcome measures for future clinical trials of treatments currently in development such as adeno‐associated virus gene replacement therapies. [ABSTRACT FROM AUTHOR]

Introduction: The effect of recovery time on neuromuscular function after a fatiguing task was compared in both the upper and lower limbs between patients with Charcot-Marie-Tooth type 1A (CMT1A) and healthy individuals. Methods: Torque of elbow flexors and knee extensors and surface electromyography (sEMG) data of biceps brachii and vastus lateralis were recorded from 8 CMT1A patients and 8 matched, healthy individuals during maximal voluntary contraction (MVC) before (pre-fatigue MVC), 10 s after (10-s post-fatigue MVC), and 10 min after (10-min post-fatigue MVC) a fatiguing task at 80% MVC until exhaustion. Results: Only in the lower limb, torque and root mean square of sEMG (RMS) during pre-fatigue MVC were lower ( P < 0.05) in patients (91.93 ± 45.95 Nm, 0.11 ± 0.07 mV) than in controls (161.06 ± 75.5 Nm, 0.24 ± 0.16 mV). In the 10-min post-fatigue MVC, muscle-fiber conduction velocity (MFCV) and RMS, expressed as a percentage of pre-fatigue MVC, were lower ( P < 0.05) in patients (MFCV 90.3 ± 6.91%, RMS 84.50 ± 9.89%) than in controls (MFCV 100.87 ± 5.1%, RMS 92.71 ± 11.84%). Conclusions: CMT1A patients are not only weaker than healthy individuals in the knee extensors, but they also have impaired neuromuscular recovery after fatigue. Muscle Nerve 46: 434-439, 2012 [ABSTRACT FROM AUTHOR]

ABSTRACT Carpal tunnel syndrome (CTS) is not difficult to confirm by electrodiagnosis (EDx), but the challenge lies in whether to grade the severity and the method for doing so. The arguments about grading are discussed, with an emphasis in favor, using a method that relies on the EDx data, but qualifies that it is the median neuropathy being graded and not the syndrome of CTS. Although use of latencies can be arbitrary and misleading, it is possible to apply other criteria, such as low amplitudes or conduction block and denervation, to develop a grading scale that could be applied widely. Several previously published grading schemes are reviewed, and a new method is described that combines the prior ranking criteria into 3 basic categories. Application of a grading system identifies the degree of nerve injury and thus allows the referring physician to utilize optimally the EDx report to manage the patient. Muscle Nerve 48: 331-333, 2013 [ABSTRACT FROM AUTHOR]