A case of atypical hyperkalemic periodic paralysis is reported. The diagnosis was confirmed by hyperkalemic test, cold water test, and differentiation of attack period and rest period by the measurement of motor nerve...A case of atypical hyperkalemic periodic paralysis is reported. The diagnosis was confirmed by hyperkalemic test, cold water test, and differentiation of attack period and rest period by the measurement of motor nerve conduction amplitude. Etio-pathology of this disease is discussed from the view of neuroelectrophysiology.展开更多
CACNA1 S gene is the gene encoding L-type calcium channel αa-subunit. CACNA1 S gene mutations can cause hypokalemic periodic pa- ralysis （HOKPP）. The related research speculated that CACNA1 S gene was the candidate...CACNA1 S gene is the gene encoding L-type calcium channel αa-subunit. CACNA1 S gene mutations can cause hypokalemic periodic pa- ralysis （HOKPP）. The related research speculated that CACNA1 S gene was the candidate genes which affect meat quality traits. In the present ar- ticle, the biological characteristics of CACNA1 S gene, structure, genetic diseases and the research development were respectively reviewed so as to provide a reference for further research.展开更多
Rhabdomyolysis continues to appear with increasing frequency and represents a medical emergency requiring rapid appropriate treatment. One of the unusual causes of nontraumatic rhabdomyolysis is hypokalemic periodic p...Rhabdomyolysis continues to appear with increasing frequency and represents a medical emergency requiring rapid appropriate treatment. One of the unusual causes of nontraumatic rhabdomyolysis is hypokalemic periodic paralysis without secondary causes. Primary hypokalemic periodic paralysis is a rare genetic disease characterized by episodic attacks of muscle weakness due to decreases in serum potassium. A 30-year-old woman who had 3 episodic attacks of hypokalemic periodic paralysis was admitted in emergency room with sudden onset symmetrical muscle weakness. After several hours, she started to complain myalgia and severe ache in both calves without any changes. Laboratory test showed markedly elevated creatine phosphokinase, lactic dehydrogenase levels with hypokalemia, rhabdomyolysis resulting from hypokalemia was diagnosed. Here, we report an unusual case of rhabdomyolysis caused by severe hypokalemia, which was suggested a result of familial hypokalemic periodic paralysis.展开更多
Background Normokalaemic periodic paralysis （normoKPP） is characterized by transient and recurrent myoasthenia, and some patients also show muscle stiffness induced by cold exposure （paramyotonia congenita, PMC）. ...Background Normokalaemic periodic paralysis （normoKPP） is characterized by transient and recurrent myoasthenia, and some patients also show muscle stiffness induced by cold exposure （paramyotonia congenita, PMC）. It is caused by a mutation in the muscle voltage gated sodium channel alpha subunit （SCN4A） gene. Due to the diversity of the clinical manifestations of patients, it is difficult for clinicians to differentiate some of patients with atypical normoKPP from those who suffer from other periodic paralysis and nondystrophic myotonia. So far, for normoKPP there are almost no ways to assist definite diagnosis besides genetic screening. This research was designed to evaluate an exercise test （ET） in confirming the diagnosis of normoKPP and in assessing the therapeutic effectiveness of some drugs on this disease. Methods ET, described by McMains, was performed on six subjects from a Chinese family, including four patients with overlapping disease of normoKPP and PMC caused by a mutation of SCN4A Met1592Val that is identified by genetic analysis and two normal control members. The change of compound muscle action potential （CMAP） was recorded. Besides the family, two patients were also tested during treatments with acetazolamide. Results All patients showed a slight increase in CMAP immediately after exercise, followed by an abnormal gradual decline, which reached its nadir 25-30 minutes after exercise. CMAP amplitude dropped by more than 40% in patients but less than 23% in controls. In the patients who received treatment with acetazolamide, the change of CMAP amplitude was less than 28% and, at any fixed times, less than pretreatment values. Conclusions The ET may be used as a predictive, easy and reliable method of diagnosing normoKPP under conditions without genetic screening help, and is an objective way to evaluate the therapeutic effectiveness. According to different response patterns, the ET may also be helpful in reducing the scope of genetic screening.展开更多
Background The long-time exercise test （ET） is used to diagnose the primary periodic paralyses （PPs）.However the reference values of ET are many and various.This study aimed to investigate the reference value of l...Background The long-time exercise test （ET） is used to diagnose the primary periodic paralyses （PPs）.However the reference values of ET are many and various.This study aimed to investigate the reference value of long-time ET in the diagnosis of PPs.Methods We recruited 108 healthy subjects,68 patients with PPs,and 72 patients with other diseases for the study.The procedure of ET was made on the basis of the McManis＆#39; method.Electrical responses were recorded from right abductor digiti minimi （ADM） muscle when stimulation of the ulnar nerve at the wrist.After the compound muscle action potential （CMAP） was monitored,subjects were then asked to contract the muscle as strongly as possible for 5 minutes.CMAPs were recorded for 2 seconds immediately after cessation of exercise,then every 5 minutes for 10 minutes,and finally every 10 minutes for 50 minutes.In general,the CMAP amplitudes will fall below the pre-exercise levels in an hour.The largest decrease was calculated and used as results of ET.Results The CMAP amplitude decreases had no significant differences between groups when the healthy adults were grouped according to age,gender,height,weight and test time.Decreases in PPs patients （57.76%） were significantly more than in healthy subjects （15.21%） and other disease patients （18.10%,P 〈0.001）.Receiver operating characteristic （ROC） curve analysis showed that the best threshold is 35.50%.Conclusions In the long-time exercise test,threshold of 35.50% for the CMAP amplitude decrease was identified for abnormal.The result is not influenced by age,gender,height,weight,and test time.About 7.4% of healthy subjects were abnormal in ET.展开更多
文摘A case of atypical hyperkalemic periodic paralysis is reported. The diagnosis was confirmed by hyperkalemic test, cold water test, and differentiation of attack period and rest period by the measurement of motor nerve conduction amplitude. Etio-pathology of this disease is discussed from the view of neuroelectrophysiology.
文摘CACNA1 S gene is the gene encoding L-type calcium channel αa-subunit. CACNA1 S gene mutations can cause hypokalemic periodic pa- ralysis （HOKPP）. The related research speculated that CACNA1 S gene was the candidate genes which affect meat quality traits. In the present ar- ticle, the biological characteristics of CACNA1 S gene, structure, genetic diseases and the research development were respectively reviewed so as to provide a reference for further research.
文摘Rhabdomyolysis continues to appear with increasing frequency and represents a medical emergency requiring rapid appropriate treatment. One of the unusual causes of nontraumatic rhabdomyolysis is hypokalemic periodic paralysis without secondary causes. Primary hypokalemic periodic paralysis is a rare genetic disease characterized by episodic attacks of muscle weakness due to decreases in serum potassium. A 30-year-old woman who had 3 episodic attacks of hypokalemic periodic paralysis was admitted in emergency room with sudden onset symmetrical muscle weakness. After several hours, she started to complain myalgia and severe ache in both calves without any changes. Laboratory test showed markedly elevated creatine phosphokinase, lactic dehydrogenase levels with hypokalemia, rhabdomyolysis resulting from hypokalemia was diagnosed. Here, we report an unusual case of rhabdomyolysis caused by severe hypokalemia, which was suggested a result of familial hypokalemic periodic paralysis.
文摘Background Normokalaemic periodic paralysis （normoKPP） is characterized by transient and recurrent myoasthenia, and some patients also show muscle stiffness induced by cold exposure （paramyotonia congenita, PMC）. It is caused by a mutation in the muscle voltage gated sodium channel alpha subunit （SCN4A） gene. Due to the diversity of the clinical manifestations of patients, it is difficult for clinicians to differentiate some of patients with atypical normoKPP from those who suffer from other periodic paralysis and nondystrophic myotonia. So far, for normoKPP there are almost no ways to assist definite diagnosis besides genetic screening. This research was designed to evaluate an exercise test （ET） in confirming the diagnosis of normoKPP and in assessing the therapeutic effectiveness of some drugs on this disease. Methods ET, described by McMains, was performed on six subjects from a Chinese family, including four patients with overlapping disease of normoKPP and PMC caused by a mutation of SCN4A Met1592Val that is identified by genetic analysis and two normal control members. The change of compound muscle action potential （CMAP） was recorded. Besides the family, two patients were also tested during treatments with acetazolamide. Results All patients showed a slight increase in CMAP immediately after exercise, followed by an abnormal gradual decline, which reached its nadir 25-30 minutes after exercise. CMAP amplitude dropped by more than 40% in patients but less than 23% in controls. In the patients who received treatment with acetazolamide, the change of CMAP amplitude was less than 28% and, at any fixed times, less than pretreatment values. Conclusions The ET may be used as a predictive, easy and reliable method of diagnosing normoKPP under conditions without genetic screening help, and is an objective way to evaluate the therapeutic effectiveness. According to different response patterns, the ET may also be helpful in reducing the scope of genetic screening.
文摘Background The long-time exercise test （ET） is used to diagnose the primary periodic paralyses （PPs）.However the reference values of ET are many and various.This study aimed to investigate the reference value of long-time ET in the diagnosis of PPs.Methods We recruited 108 healthy subjects,68 patients with PPs,and 72 patients with other diseases for the study.The procedure of ET was made on the basis of the McManis＆#39; method.Electrical responses were recorded from right abductor digiti minimi （ADM） muscle when stimulation of the ulnar nerve at the wrist.After the compound muscle action potential （CMAP） was monitored,subjects were then asked to contract the muscle as strongly as possible for 5 minutes.CMAPs were recorded for 2 seconds immediately after cessation of exercise,then every 5 minutes for 10 minutes,and finally every 10 minutes for 50 minutes.In general,the CMAP amplitudes will fall below the pre-exercise levels in an hour.The largest decrease was calculated and used as results of ET.Results The CMAP amplitude decreases had no significant differences between groups when the healthy adults were grouped according to age,gender,height,weight and test time.Decreases in PPs patients （57.76%） were significantly more than in healthy subjects （15.21%） and other disease patients （18.10%,P 〈0.001）.Receiver operating characteristic （ROC） curve analysis showed that the best threshold is 35.50%.Conclusions In the long-time exercise test,threshold of 35.50% for the CMAP amplitude decrease was identified for abnormal.The result is not influenced by age,gender,height,weight,and test time.About 7.4% of healthy subjects were abnormal in ET.
