myotonia congenita(redirected from Congenital myotonia)
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Related to Congenital myotonia: Thomsen disease
any disorder involving tonic spasm of muscle. adj., adj myoton´ic.
myotonia atro´phica myotonic dystrophy.
myotonia conge´nita a hereditary disease marked by tonic spasm and rigidity of certain muscles when attempts are made to move them. The stiffness tends to disappear as the muscles are used.
myotonia dystro´phica myotonic dystrophy.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.
an uncommon muscle disorder, with onset in infancy or early childhood, characterized by muscle hypertrophy, myotonia, and a nonprogressive course; autosomal dominant inheritance; caused by mutations in the skeletal muscle chloride channel gene (CLCN1) on chromosome 7q.
Synonym(s): Thomsen disease
Farlex Partner Medical Dictionary © Farlex 2012
Any of several types of heritable diseases, including Becker disease and Thomsen disease, that are caused by mutations in the genes that affect chloride ion channels in the skeletal muscles and are characterized by tonic spasm and temporary rigidity of certain muscles after an attempt has been made to move them.
The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.
myotonia congenita(1) Becker muscle dystrophy, see there.
(2) Paramyotonia congenita, see there; also known as Thomsen disease.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
myotonia congenitaThomsen's disease Neurology An AD or AR condition characterized by deficiency of true cholinesterase Clinical Inability of muscles to relax quickly, resulting in myotonia, gagging, dysphagia, stiff movement that improves with repetition; Pts are often muscular. See Myotonia.
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.
myotonia congenitaA dominant genetic disease in which the affected person has great difficulty in relaxing muscles after they have been contracted. A grasp can be released only slowly and with great difficulty and the tightly shut eyes may take many seconds to open again. The condition gradually improves with age.
Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005