paramyotonia

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Translations

par·a·my·o·to·ni·a

n. paramiotonía, miotonía atópica caracterizada por espasmos musculares y tonicidad anormal de los músculos.
ataxic ___ → ___ atáxica;
congenital ___ → ___ congénita;
___ disorder → trastorno de ___;
symptomatic ___ → ___ sintomática.
English-Spanish Medical Dictionary © Farlex 2012
References in periodicals archive
SCN4A -associated disorders include hyperkalemic periodic paralysis (hyperPP, OMIM: 170500), hypokalemic periodic paralysis Type 2 (OMIM: 613345), paramyotonia congenita (PMC, OMIM: 168300), sodium channel myotonias (SCM, OMIM: 608390), and congenital myasthenic syndrome (OMIM: 614198).
Novel Mutations in SCN4A Gene Cause Myotonia Congenita with Scoliosis
OUR AUCKLAND University of Technology (AUT) research team is embarking on a national study to find out how many people are affected by genetic muscle disorders, including the muscular dystrophies, congenital myopathy, myotonia congenital, paramyotonia congenita, central core disease, Pompe disease, nemaline, myotubular and GNE myopathies, and periodic paralysis.
Genetic muscle disorders study
Paramyotonia congenita (PC) is a muscular disorder characterized by myotonia, or muscular stiffness, at cold temperatures.
Computational modeling of the muscle disorder paramyotonia congenita
Paramyotonia congenita with an SCN4A mutation affecting cardiac repolarization.
Paroxysmal supraventricular arrhythmias during hypokalemic episodes in a patient with hypokalemic periodic paralysis/Hipokalemik periyodik paralizili bir hastada hipokalemik epizodlar sirasinda gelisen paroksismal supraventrikuler aritmiler
Inherited disorders that present myotonia as a major sign include DM1 and DM2, chloride channelopathies or myotonia congenita (Thomsen and Becker diseases) and sodium channelopathies (paramyotonia congenita, potassium-aggravated myotonia and hyperkalemic periodic paralysis) (reviewed in Morales and Cuenca 2004).
Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene
(Some researchers regard paramyotonia congenita as a form of periodic paralysis.)
Facts About Myopathies
These disorders (myotonia congenita, paramyotonia congenita, periodic paralysis and central core disease) are sometimes called channelopathies.
Facts About Myopathies
Myotonia congenita Paramyotonia congenita Central core disease Nemaline myopathy Myotubular myopathy Periodic paralysis
Facts about amyotrophic lateral sclerosis
There are eight inheritable myopathies: central core disease, myotonia congenita, paramyotonia congenita, myotubular myopathy, nemaline myopathy, hypokalemic periodic paralysis, hyperkalemic periodic paralysis and normokalemic periodic paralysis.
Facts about myopathies
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