Episodes Of Muscle Weakness Research Articles

A Case Report of Hypokalemic Periodic Paralysis with Arrhythmia

The hypokalemic periodic paralysis is characterized by intermittent flaccid paralysis of extremities with spontaneous recovery. It is rarely accompanied by cardiac arrhythmia, especially fatal ventricular tachycardia or torsades de pointes. We observed a 29 year old man, who had suffered from intermittent periodic paralysis and fatal ventricular tachyarrhythmia. He had the first episode of muscle weakness in his low grade of elementary school, which lasted for 20-30 hours. Similar episodes of muscle weakness occurred 1–7 times per year, especially after carbohydrate rich food. On admission to emergency room, his chief complaints were generalized weakness and chest tightness, serum potassium level was 1.6mEq/L, and four extremities showed Grade 0 motor weakness. His electrocardiography(ECG) showed Atrioventricular dissociation due to sinus tachycardia and accelerated junctional rhythm, intraventricular conduction disturbance. During intravenous potassium administration, ECG showed sustained ventricular tachycardia and cardiovascular collapse occurred. So we carried out resuscitation and cardioversion. After resuscitation, he recovered from cardiovascular collapse and ECG showed sinus tachycardia. But during continuous monitoring ECG showed torsades de pointes with cardiovascular collapse. We carried out resuscitation and defibrillation repeatedly. Serum potassium level was 1.7-1.8mEq/L at that time. After successful resuscitation, ECG showed sinus rhythm, and his mental status was fully recovered. After he admitted to intensive care unit, paralytic attack and cardiac arrhythmia did not occurred any more. Serum potassium level was maintained between 3.9-6.1mEq/L during his hospital days. He was fully recovered but could not take any medications(e.g. acetazolamide, potassium supplying agent and antiarrhythmic drugs) due to severe gastrointestinal disturbances. During the 30 months of postdischarge period, he experienced three mild paralysis attacks, but they were not accompanied by chest tightness, palpitation or syncope.

Narcolepsy Researchers Barking Up the Right Tree

THE PROSPECT of a tasty morsel so excited Kahlua that she collapsed with cataplexy, a sudden episode of muscle weakness. Kahlua is 1 of 25 Doberman pinschers with a naturally occurring form of narcolepsy in a dog colony at Stanford (Calif) University School of Medicine, where researchers are gaining purchase on the narcolepsy gene. New findings about the heritability of narcolepsy and advances in its treatment were reported at the joint meeting of the American Sleep Disorders Association and Sleep Research Society in Washington, DC, in June. About 1 in 2000 persons has narcolepsy, a neurologic condition characterized by chronic excessive daytime sleepiness and pathologic manifestations of rapid eye movement (REM) sleep. Cataplexy is a pathological equivalent of REM sleep atonia. It is triggered by emotions in dogs as well as in humans, in whom laughter, elation, surprise, or anger may cause the knees to give way, sometimes causing a

Laryngeal and pharyngeal dysfunction in horses homozygous for hyperkalemic periodic paralysis

Objective Evaluate histories, clinical signs, and laboratory data of 69 horses homozygous by DNA testing for hyperkalemic periodic paralysis (HPP). Design Cohort study. Sample Population 69 of 189 horses testing homozygous for HPP between October 1992 and November 1994. Procedure Questionnaires addressing signalment, training regimes, medical history, and current status of affected horses were sent to owners, trainers, or attending veterinarians. Data from completed questionnaires were tabulated and evaluated, using descriptive statistics. Results Sixty-nine (37%) of 189 questionnaires were completed and returned. Clinical episodes of muscle weakness or paralysis varied in severity and frequency from mild muscle fasciculations to recumbency and death. Sixty-three of 68 HPP-affected horses were reported to have had stridor associated with exercise, excitement, stress, or episodes of muscle paralysis. Common endoscopic findings in affected horses included pharyngeal collapse, pharyngeal edema, laryngopalatal dislocation, and laryngeal paralysis. Twelve of 27 horses receiving acetazolamide had decreases in stridor while receiving medication. Clinical Implications Most horses testing homozygous for HPP had clinical signs associated with pharyngeal and laryngeal dysfunction. Hyperkalemic periodic paralysis should be included on a differential list for horses examined for signs of laryngeal or pharyngeal dysfunction or stridor. Treatment with acetazolamide may help to control respiratory tract signs associated with this disease. (J Am Vet Med Assoc 1996;209:798–803)

Sodium channel gene defects in the periodic paralyses

Abnormal Na + currents that produce membrane depolarization have been associated with the episodes of muscle weakness that are the hallmark of the periodic paralyses. There is now strong evidence that various point mutations in the gene encoding the adult skeletal muscle voltage-dependent Na + channel produce these abnormal currents, and are responsible for the expression of the disease phenotype.

Combined enzyme defect of mitochondrial fatty acid oxidation.

A young girl presented with recurrent episodes of muscle weakness culminating in a severe attack of generalized muscle weakness. In the muscle mitochondria from the patient there was an abnormal pattern of intermediates of beta-oxidation with an accumulation of 3-hydroxyacyl- and 2-enoyl-CoA and carnitine esters, and 3-oxoacylcarnitines. There was low activity of long-chain 3-hydroxyacyl-CoA dehydrogenase in mitochondria from all tissues. The activity of long-chain 2-enoyl-CoA hydratase was low in muscle mitochondria and 3-oxoacyl-CoA thiolase activity measured with 3-oxohexadecanoyl-CoA as substrate was low in fibroblast, muscle, and cardiac mitochondria but only partial deficiency was present when the activity was measured with 3-oxooctanoyl-CoA. The activity of the long-chain 3-hydroxyacyl-CoA dehydrogenase and long-chain 3-oxoacyl-CoA thiolase in fibroblasts from the patient's parents was intermediate between those of controls and the patient. The patient has a combined defect of the long-chain 3-hydroxyacyl-CoA dehydrogenase, long-chain 3-oxoacyl-CoA thiolase, and long-chain 2-enoyl-CoA hydratase which appears to be inherited in an autosomal recessive manner. This suggests there is a multifunctional enzyme catalyzing these activities in human mitochondria and that this enzyme is deficient in our patient.

Hyperkalemic Periodic Paralysis and the Adult Muscle Sodium Channel α-Subunit Gene

Hyperkalemic periodic paralysis (HYPP) is an autosomal dominant disorder characterized by episodes of muscle weakness due to depolarization of the muscle cell membrane associated with elevated serum potassium. Electrophysiological studies have implicated the adult muscle sodium channel. Here, portions of the adult muscle sodium channel alpha-subunit gene were cloned and mapped near the human growth hormone locus (GH1) on chromosome 17. In a large pedigree displaying HYPP with myotonia, these two loci showed tight linkage to the genetic defect with no recombinants detected. Thus, it is likely that the sodium channel alpha-subunit gene contains the HYPP mutation.

Gitelman Syndrome

Gitleman syndrome is a rare entity. It is a benign disorder that can present with many metabolic derangements. Here we report a patient presenting with recurrent episodes of muscle weakness, muscle cramps that was diagnosed as a cas of Gitlemans syndrome. DOI: http://dx.doi.org/10.3329/jom.v13i1.10090 JOM 2012; 13(1): 118-119

Periodic paralysis with generalized epilepsy in a Nigerian child: A case report

The periodic paralyses are a rare group of muscle channel opathies characterized by intermittent attacks of episodic muscle weakness of variable duration. Typically, symptoms begin in the first or second decade of life. This case describes a 13 year-old girl with generalized epilepsy who presented with a 9- year history of recurrent attacks of inability to walk. Attacks which occurred at a frequency of 2-3 times a year with spontaneous resolution were often triggered by exposure to cold, strenuous exercise and occasionally by convulsions. At presentation, the index episode had been on -going for 2 days. Management of the acute paralytic episode and prophylaxis were accomplished with oral acetazolamide administration. This report underscores the ease with which effective prevention of paralytic episodes in periodic paralyses could be achieved in a resourcepoorsetting.Keywords: Periodic paralyses, Channelopathies, Epilepsy, Acetazolamide, Nigerian, Child.

The association of periodic paralysis with hyperthyroidism.

Periodic paralysis is a rare syndrome characterized by brief episodes of weakness or paralysis of skeletal muscles. Infrequently seen and poorly understood, this syndrome has been of interest primarily to neurologists and to those investigating the metabolism of skeletal muscle. A wider appreciation of periodic paralysis is warranted, however, because of the occasional concurrent appearance of this syndrome with hyperthyroidism. In this unusual situation, previously reported in only 14 patients in the United States, the striking episodes of muscle weakness may predominate in the early clinical course. Recognition of the associated hyperthyroidism is mandatory because adequate relief of both aspects of this combination is achieved only when euthyroidism is reestablished. A recent patient, the 15th to be reported from this country, illustrates the clinical course and the results obtained by subtotal thyroidectomy. Report of a Case A 24-year-old Latin-American male college student was first seen at the Veterans Administration Hospital