myotonia congenita

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Related to Congenital myotonia: Thomsen disease

myotonia

 [mi″o-to´ne-ah]
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.

my·o·to·ni·a con·gen·i·ta

[MIM*160800]
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

myotonia congenita

(kən-jĕn′ĭ-tə)
n.
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.

myotonia congenita

[konjen′itə]
a rare mild and nonprogressive form of myotonic myopathy evident early in life. The only effects of the disorder are hypertrophy and stiffness of the muscles. Also called Thomsen's disease.

myotonia congenita

(1) Becker muscle dystrophy, see there. 
(2) Paramyotonia congenita, see there; also known as Thomsen disease.

myotonia congenita

Thomsen'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.

myotonia congenita

A 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.

myotonia congenita

hereditary disease characterized by brief tonic spasms in a muscle/group of muscles, whenever a voluntary movement involving those muscles is attempted

myotonia

any disorder involving tonic spasm of muscle.

acquired myotonia
myotonia congenita
an inherited muscle stiffness with stilted gait that worsens with excitement is observed from a few months of age in Chow Chows, Labrador retrievers and Irish terriers.
equine myotonia
is manifest with a stiff gait, hypertrophy of the proximal appendicular musculature and percussion of muscle produces sustained contraction. It may be inherited in some Quarter horse lines.
inherited congenital myotonia
a disease of goats, characterized by inability to move quickly. The limbs become rigid due to muscle contraction, but after a few minutes rest the animal is able to move normally. It is similar to myotonia congenita in humans.
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