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Objective:To explore the clinical and electrophysiological characteristics of flail arm syndrome (FAS).Methods:Clinical and electrophysiological data were collected on 13 FAS patients and 31 persons with upper limb onset amyotropic lateral sclerosis (UL-ALS), including the amplitude of compound muscle action potential (CMAP) related to median nerve, ulnar nerve, and axillary nerve motor conduction. A split-hand index (SI) was calculated by dividing the CMAP amplitude of abductor pollicis brevis by that of the abductor digiti minimi. Clinical features, the CMAP amplitudes and SIs were compared between the FAS and UL-ALS patients.Results:Compared with UL-ALS patients, the age at onset among the FAS patients was older (averaging 60.9 years). The development to the second stage was longer (24±6 months). The upper limb reflexes of 15% of the FAS patients had disappeared and those of 77% were weakened, while the lower limb reflexes of 54% of the FAS patients were active and 38% were weakened, significantly different from the UL-ALS patients. However, there were no significant differences in the CMAP amplitudes of the median and ulnar nerves, nor in SI between the FAS and UL-ALS patients. The SIs of the FAS patients with upper motor neuron signs were significantly lower than those of FAS patients without such signs. Among the FAS patients, the average CMAP amplitude of the ulnar nerve was the highest, followed by those of the median and axillary nerves. Among the UL-ALS patients, however, the average CMAP amplitude of the ulnar nerve was not significantly different from that of the axillary nerve.Conclusions:FAS patients with upper motor neuron signs are more likely to have slip hand. The CMAP amplitude of their axillary nerve tends to be lower than that of their median and ulnar nerves. FAS seems to be a special type of ALS.
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Objective To report the clinical features, myopathological changes, and gene mutations in five Chinese patients with mitochondrial diseases caused by POLG gene mutations. Methods Clinical materials of five unrelated patients who were referred to Department of Neurology, Peking University First Hospital from April 2012 to January 2018, carrying POLG gene mutations, were retrospectively analyzed. Muscle/nerve biopsies and targeted second-generation gene sequencing were performed on the patients. Results Among the five patients, three were male and two were female. Two cases were dominant inheritance and three were sporadic or recessive inheritance. The ages of onset were from 15 to 40 years with disease course of one to 26 years. One of them showed atypical SANDO (sensory ataxic neuropathy, dysarthria, and ophthalmoparesis) syndrome accompanied by cardiac preexcitation syndrome. There were two cases with autosomal dominant and one case with recessive progressive external ophthalmoplegia plus syndrome. One case presented with cognitive delay and sensory neuropathy. The pathological changes of mitochondrial myopathy were observed in all four patients with muscle involvement. Sural nerve biopsy in the patient with cognitive delay and sensory ataxia revealed chronic axonal pathological changes. POLG gene mutations were found in all five patients by targeted next generation sequencing, including single heterozygous mutations in two dominant inherited patients (c. 914 G＞A and c. 2864A＞G, respectively), and compound heterozygous POLG gene mutations in the other three sporadic/recessive inherited patients (c. 2591 A＞G/c. 1790 G＞A, c. 924G＞T/c. 3002delG and c. 1613A＞T/c. 1612 G＞T, respectively). There were six novel mutations not reported before, i.e., c.914G＞A(p.S305N), c.924G＞T(p.Q308H), c.1613A＞T(p.E538V), c.1612G＞T(p.E538*), c.1790 G＞A(p.R597Q) and c.3002delG. Conclusions POLG gene mutations can lead to different clinical spectrums. Progressive external ophthalmoplegia, limb weakness and axonal sensory neuropathy are common presentations in this group of patients with POLG gene related mitochondrial neuromuscular diseases. Novel mutations found in this study expand the mutational spectrum of POLG gene.
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Objective To evaluate the accuracy of electromyography (EMG) in localizing the compressed nerve root in lumbar intervertebral disc protrusion (LIDP) pre-operatively.Methods Data were collected on 198 cases of LIDP.Of those,152 cases had positive EMG findings and were treated surgically to relieve compression of the nerve roots caused by LIDP.The intra-operative findings were compared with the pre-operative EMG findings.Results The sensitivity of EMG in detecting radiculopathy was 76.8％ (152/198).Among those 152 EMG positive cases,140 were confirmed in the subsequent operation (92.1％),24 clinically suspected cases of single L5 or S1 compression had indicated of both L5 and S1 damage by EMG and subsequently confirmed on surgical exploration.Conclusions Almost all preoperative EMG findings were confirmed in the subsequent operations (92.1％).Moreover,the indication of combined double nerve root damage by EMG was valuable for guiding the surgical procedure.
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Objective To investigate the diagnostic value of electrophysiological examination for tarsal tunnel syndrome (TTS).Methods Motor nerve conduction velocity (MCV),sensory nerve conduction velocity (SCV),F wave and electromyographic measurements were carried out with 26 clinically suspected TTS patients.Results Of the 26,22 patients were unilaterally affected and 4 were bilaterally affected,so 30 tarsal tunnels in total were affected.All received electrophysiological examination.Of the 30 affected tarsal tunnels,abnormal MCV was detected in 28 of the posterior tibial nerves (93.3％),while abnormal SCV was detected in 27 medial plantar nerves (90％) and 24 lateral plantar nerves (80％).Needle electromyography of 156 targeted foot muscles detected abnormal spontaneous potentials in 90 of them (57.7％),giant potential in 12 muscles (7.7％) and decreased recruitment in 76 (48.7％).Conclusions The distal posterior tibial nerve is impaired in TTS,presenting axonal damage in an electrophysiological examination.Such examinations should have an important role in the diagnosis and differential diagnosis of TTS.