1/94. The exercise test in andersen syndrome.BACKGROUND: andersen syndrome is a rare form of periodic paralysis (PP) associated with dysmorphic features and potentially fatal cardiac dysrhythmias. To date, no electrodiagnostic abnormalities have been reported that can be used to confirm the presence of PP in this condition. OBJECTIVES: To determine if the exercise test could be used to confirm the diagnosis of PP in andersen syndrome. To evaluate the exercise test as a means to assess neuromuscular status during treatment. methods: We performed the exercise test on 2 patients with andersen syndrome. In 1 patient, we used a modified version of the test to document responsiveness to treatment with tocainide. RESULTS: Studies in both patients demonstrated a progressive decline in the compound muscle action potential amplitude after exercise that was characteristic of the phenomenon seen in other forms of PP. In 1 patient, improvement in interattack strength and a reduction in the number of attacks of weakness correlated with improvement in the test results. CONCLUSIONS: Our cases demonstrate that the exercise test can confirm the diagnosis of PP in andersen syndrome. A modified version of exercise testing may also be considered as an objective method for documenting treatment responses in PP.- - - - - - - - - - ranking = 1keywords = paralysis (Clic here for more details about this article) |
2/94. Dominant-inherited hypokalemic periodic paralysis in a large Chinese family.Familial hypokalemic periodic paralysis (HoPP) is a rare condition among Chinese. We studied a large Chinese family (48 members in six generations) with dominant-inherited HoPP, using incidental tracing of family history of a proband who presented with the typical features of HoPP. Fifteen family members were found to have the disease. We found the familial type of HoPP to differ from the sporadic type in taiwan, in that the familial type has an equal gender distribution, earlier onset of paralytic attacks, and more severe clinical features in both frequency and extent. When these patients were compared with Caucasian families, the common features were the involvement of the respiratory and the bulbar muscles, and the eye muscles in Chinese patients. Cold-induced attacks and permanent muscle weakness were not common in Chinese subjects. Age and history of paralytic attacks were not the major determinants for the development of permanent muscle weakness. Two family members died during attacks because of severe involvement of the respiratory and bulbar muscles.- - - - - - - - - - ranking = 5keywords = paralysis (Clic here for more details about this article) |
3/94. andersen syndrome autosomal dominant in three generations.andersen syndrome is a rare entity and comprises potassium sensitive periodic paralysis, ventricular arrhythmia, and an unusual facial appearance; syncope and sudden death have also been reported. The recognition of the characteristic face permits an early diagnosis in order to detect the severe systemic manifestations that are associated with this syndrome. The genetic defect is not linked to any other form of potassium sensitive periodic paralysis nor is it related to that of the long qt syndrome; nevertheless, a prolonged QT interval can be detected in a significant proportion of the cases. Sixteen cases of this syndrome have been described. We report on a three-generation family with 10 affected members. To our knowledge, this is the largest number of cases reported in one family. We noted some additional minor anomalies such as broad forehead and malar hypoplasia. Our patients had variable expression in the classical triad and of the severity of the systemic manifestations. Five of 8 affected studied members did not have a long QTc, which has been suggested as a constant finding in this syndrome.- - - - - - - - - - ranking = 2keywords = paralysis (Clic here for more details about this article) |
4/94. Thyrotoxic hypokalemic periodic paralysis case report and review of the literature.A rare complication of hyperthyroidism consists of sudden diffuse muscle weakness associated with severe hypokalemia. The clinical presentation is similar in most respects to familial periodic paralysis; however, the therapies proven to be effective differ in the two syndromes. A case of thyrotoxic hypokalemic periodic paralysis is presented and the literature is reviewed.- - - - - - - - - - ranking = 6keywords = paralysis (Clic here for more details about this article) |
5/94. A double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation.Hyperkalemic periodic paralysis (HyperKPP) is an autosomal dominant skeletal muscle disorder caused by single mutations in the SCN4A gene, encoding the human skeletal muscle voltage-gated Na( ) channel. We have now identified one allele with two novel mutations occurring simultaneously in the SCN4A gene. These mutations are found in two distinct families that had symptoms of periodic paralysis and malignant hyperthermia susceptibility. The two nucleotide transitions predict phenylalanine 1490-->leucine and methionine 1493-->isoleucine changes located in the transmembrane segment S5 in the fourth repeat of the alpha-subunit Na( ) channel. Surprisingly, this mutation did not affect fast inactivation parameters. The only defect produced by the double mutant (F1490L-M1493I, expressed in human embryonic kidney 293 cells) is an enhancement of slow inactivation, a unique behavior not seen in the 24 other disease-causing mutations. The behavior observed in these mutant channels demonstrates that manifestation of HyperKPP does not necessarily require disruption of slow inactivation. Our findings may also shed light on the molecular determinants and mechanism of Na( ) channel slow inactivation and help clarify the relationship between Na( ) channel defects and the long-term paralytic attacks experienced by patients with HyperKPP.- - - - - - - - - - ranking = 6keywords = paralysis (Clic here for more details about this article) |
6/94. Primary sjogren's syndrome presenting as hypokalaemic periodic paralysis and respiratory arrest.We report a case of hypokalaemic, flaccid quadriparesis with sudden respiratory arrest in a 27-year-old Japanese woman in whom the discovery of distal renal tubular acidosis led to the diagnosis of primary sjogren's syndrome (SS). Hypokalaemic periodic paralysis as the initial manifestation of primary SS is rare, but when it occurs it may precede symptoms of xerostomia and xerophthalmia. The diagnosis of primary SS should be considered in premenopausal women who present with rapidly progressive weakness and hypokalaemia. with or without the sicca complex.- - - - - - - - - - ranking = 5keywords = paralysis (Clic here for more details about this article) |
7/94. Total intravenous anaesthesia in a patient with familial hypokalaemic periodic paralysis.A 35-year-old woman with known familial hypokalaemic periodic paralysis received general anaesthesia for reduction of bilateral breast hyperplasia. Uncomplicated general anaesthesia was performed using a propofol target-controlled infusion, remifentanil infusion and bolus doses of mivacurium with neuromuscular function monitoring. plasma potassium concentrations were controlled intermittently in the peri-operative period and supplemented to achieve normokalaemia. Despite continuous substitution, an episode of low plasma potassium concentration occurred during the recovery period; this was without any clinical signs of muscle paralysis or respiratory distress.- - - - - - - - - - ranking = 6keywords = paralysis (Clic here for more details about this article) |
8/94. Thyrotoxic periodic paralysis: reports of seven patients presenting with weakness in an Asian emergency department.OBJECTIVES: This study was done to describe the features of thyrotoxic periodic paralysis in young Asian men. methods: Seven male patients were enlisted who presented to the emergency department over a period of three years with weakness and paralysis in the morning. RESULTS: Initial electrolyte studies revealed hypokalaemia in these patients, and later thyroid function tests confirmed thyrotoxicosis for all. Only two of these patients had clinical symptoms and signs of thyrotoxicosis, the others being asymptomatic. CONCLUSIONS: Early morning paralysis can be the first manifestation of hyperthyroidism in Asian men, without the other more typical symptoms of weight loss, increased appetite, excitability, sweaty palms or goitre. Treatment to a euthyroid state will ameliorate the syndrome.- - - - - - - - - - ranking = 7keywords = paralysis (Clic here for more details about this article) |
9/94. Progressive spinal muscular atrophy in a case of hypokalamic periodic paralysis.A 47-year-old man with well-documented hypokalemic periodic paralysis demons-rated permanent myopathy as shown by biopsy. In addition there was clinical and biopsy evidence of progressive spinal muscular atrophy. The feature of the combination of these diseases is reported in a case and discussed.- - - - - - - - - - ranking = 5keywords = paralysis (Clic here for more details about this article) |
10/94. Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia.BACKGROUND: Mutations in the KCNJ2 gene, which codes cardiac and skeletal inward rectifying K channels (Kir2.1), produce Andersen's syndrome, which is characterized by periodic paralysis, cardiac arrhythmia, and dysmorphic features. methods AND RESULTS: In 3 Japanese family members with periodic paralysis, ventricular arrhythmias, and marked QT prolongation, polymerase chain reaction/single-strand conformation polymorphism/dna sequencing identified a novel, heterozygous, missense mutation in KCNJ2, Thr192Ala (T192A), which was located in the putative cytoplasmic chain after the second transmembrane region M2. Using the xenopus oocyte expression system, we found that the T192A mutant was nonfunctional in the homomeric condition. Coinjection with the wild-type gene reduced the current amplitude, showing a weak dominant-negative effect. CONCLUSIONS: T192, which is located in the phosphatidylinositol-4,5-bisphosphate binding site and also the region necessary for Kir2.1 multimerization, is a highly conserved amino acid residue among inward-rectifier channels. We suggest that the T192A mutation resulted in the observed electrical phenotype.- - - - - - - - - - ranking = 6keywords = paralysis (Clic here for more details about this article) |
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