Disease relevance of Paralysis, Hyperkalemic Periodic

• This group of muscle diseases also comprises hyperkalemic periodic paralysis and paramyotonia congenita, both sodium-channel diseases, and myotonia congenita, a chloride-channel disorder [1].
• The fact that three other paroxysmal neurological disorders (periodic ataxia with myokymia and hypo- and hyperkalemic periodic paralysis) are due to mutation in ion-channel genes raises the possibility that PDC is also due to an ion-channel gene mutation [2].
• In a patient with hyperkalemic periodic paralysis, metaproterenol prevented muscular weakness and hyperkalemia in periods of rest after exercise [3].
• 1 The effects of 4-Chloro-m-Cresol (4-CmC) were examined on heterologously expressed wild type (WT), Paramyotonia Congenita (R1448H) and Hyperkalemic Periodic Paralysis (M1360V) mutant alpha-subunits of human muscle sodium channels [4].
• We then focus on genetic disorders known to be caused by abnormal structure of the transporter protein including cystic fibrosis, generalized myotonia and myotonia congenita, hyperkalemic periodic paralysis, hereditary ovalocytosis, hereditary spherocytosis and glucose malabsorption [5].

High impact information on Paralysis, Hyperkalemic Periodic

• DNA from seven unrelated patients with hyperkalemic periodic paralysis (HYPP) was examined for mutations in the adult skeletal muscle sodium channel gene (SCN4A) known to be genetically linked to the disorder [6].
• In addition, the close-by occurring substitution of valine for methionine at position 1592 known to cause hyperkalemic periodic paralysis was deduced for six families with the myotonic, non-dystrophic form of this disease [7].
• Hyperkalemic periodic paralysis in Gordon's syndrome: a possible defect in atrial natriuretic peptide function [8].
• Since this sodium channel locus is completely linked to the disease allele in all hyperkalemic periodic paralysis and paramyotonia congenita pedigrees studied, the molecular alteration causing acetazolamide-responsive myotonia congenita is likely an allelic defect in this human, skeletal-muscle, sodium channel gene [9].
• Hyperkalemic periodic paralysis associated with multiple sleep onset REM periods [10].

Chemical compound and disease context of Paralysis, Hyperkalemic Periodic

• Acute effects of acetazolamide in hyperkalemic periodic paralysis [11].
• Defective aldosterone synthesis associated with hyperkalemic periodic paralysis [12].
• Hyperkalemic periodic paralysis. Effects of potassium, exercise, glucose, and acetazolamide on blood chemistry [13].
• CONCLUSION--This association of hyperkalemic periodic paralysis with CMO-II deficiency and resolution of paralytic episodes with fludrocortisone therapy suggests a contribution of defective mineralocorticoid-mediated potassium homeostasis to the pathogenesis of hyperkalemic periodic paralysis [12].
• In one patient with hyperkalemic periodic paralysis, acetazolamide sodium therapy was discontinued and replaced with fludrocortisone acetate therapy [12].

Biological context of Paralysis, Hyperkalemic Periodic

• Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations [14].
• Point mutations on the human skeletal muscle Na+ channel (Nav1.4) give rise to hyperkalemic periodic paralysis, potassium aggravated myotonia, paramyotonia congenita and hypokalemic periodic paralysis type 2 [15].

Anatomical context of Paralysis, Hyperkalemic Periodic

• Results suggest phenytoin is useful in modifying disordered ion regulation in the sarcolemma and sarcoplasmic reticulum of skeletal muscle in equine hyperkalemic periodic paralysis [16].

Gene context of Paralysis, Hyperkalemic Periodic

• The response to ACTH appears to be a sensitive, useful aid to the diagnosis of both hypo- and hyperkalemic periodic paralysis [17].

References