Search results for "Periodic paralysis"
showing 3 items of 3 documents
Successful application of preimplantation genetic diagnosis for hypokalaemic periodic paralysis.
2009
Hypokalaemic periodic paralysis is a rare dominant inherited disease where a person suffers sudden falls of circulating potassium concentrations, producing muscle weakness and sometimes severe paralysis. Attacks can occur as frequently as several times a day or once in a year. The age of onset is usually adolescence but symptoms can appear as early as 10 years of age. Muscle weakness can compromise vital functions such as breathing or swallowing and heart arrhythmias are also frequent during attacks. Preimplantation genetic diagnosis, an early form of prenatal diagnosis for couples at risk of transmitting inherited diseases, was used to prevent the transmission of this disease. Six polymorp…
Two cases of adynamia episodica hereditaria: In vitro investigation of muscle cell membrane and contraction parameters
1983
Membrane potentials, current-voltage relationships, and contractile parameters were studied in intact muscle cell bundles obtained from two patients with adynamia episodica hereditaria. In a normal extracellular medium, the cell membranes had resting potentials of about -80 mV and their current-voltage relationships were not significantly different from control curves. In contrast to normal muscles the afflicted cells were paralyzed in a medium having 6-10 mmol/liter potassium. The mechanisms of paralysis in the two specimens were different from each other. Many fibers from one patient were spontaneously active even in normal solution. In high potassium solution spontaneous activity was inc…
Morphology of Skeletal Muscle
2013
Skeletal muscle makes up the largest organ of the body, by both volume and weight, comprising more than 40 %. More than 500 diseases concern muscle tissue, the majority of which originate in muscle, others secondarily affect the muscle, foremost by denervation. The functional and structural dependence of skeletal muscle on innervation—that is, the peripheral and central nervous systems—renders muscle tissue unique and adds a dimension to the nosology, more obviously than in other organs. Therefore, diseases affecting muscle are also termed neuromuscular diseases. Within the nosological spectrum of the muscle parenchyma, which encompasses hereditary and acquired conditions, muscular dystroph…