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Myotonia congenita is an inherited condition that affects muscle relaxation. It is congenital, meaning that it is present from birth.
Alternative NamesThomsen's disease; Becker's disease
Causes, incidence, and risk factorsMyotonia congenita is caused by a genetic change (mutation). It is passed down from either one or both parents to the children (inherited).
Myotonia congenita is caused by a problem in the part of the muscle cells that are needed for muscles to relax. Abnormal repeated electrical discharges occur in the muscles, causing a stiffness called myotonia.
SymptomsThe hallmark of this condition is the myotonia -- the inability of the muscle to quickly relax after contracting. For example, after a handshake, the person is only very slowly able to open and pull away his hand.
Early symptoms may include:
- Difficulty in swallowing
- Gagging
- Stiff movements that improve when they are repeated
- Shortness of breath or tightening of the chest at the beginning of exercise
Children with myotonia congenita often appear to be muscular and well-developed. The child may not have symptoms of myotonia congenita until age 2 or 3.
Signs and testsThe doctor may ask if there is a family history of myotonia congenita.
Tests include:
- Genetic testing
- Muscle biopsy
- Test of the electrical activity in muscles (EMG)
Treatment for symptoms includes:
- Mexiletine
- Phenytoin
- Procainamide
People with this condition can do well. Symptoms only occur when a movement is first started. After a few repetitions, the muscle relaxes and the movement becomes normal. Symptoms may improve later in life.
Complications- Aspiration pneumonia caused by swallowing difficulties
- Frequent choking, gagging, or difficulty swallowing in an infant
- Abdominal muscle weakness
- Chronic joint problems
Call your health care provider if your child has symptoms of myotonia congenita.
PreventionGenetic counseling may be of interest to couples who want to have children and have a family history of myotonia congenita.
ReferencesBarohn RJ. Muscle diseases. Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2008:chap 447.
Bernard G, Shevell MI. Channelopathies: a review. Pediatr Neurol. 2008 Feb;38(2):73-85.
What else can I help you with?
Is there any medication for myotonia congenita?
mexilitine, quinine,
Are there fainting people like there are fainting goats?
actually fainting goats dont acatually faint or loose consisousness they just get stiff legs and fall over. as they get older they lean to adapt to this problem and try to lean on somthing to prvent from falling over. but the name of this issue is myotonia congenita. Myotonia congenita can occur anywhere to mice to humans.
What is the medical term meaning delayed relaxation of a muscle after a strong contraction?
The medical term for delayed relaxation of a muscle after a strong contraction is myotonia. This condition is characterized by prolonged muscle stiffness or difficulty relaxing the muscle after it has been contracted. Myotonia can occur in conditions such as myotonic dystrophy or myotonia congenita.
What makes pygmy goats faint?
Pygmy goats do not faint; myotonic or "fainting" goats do. They faint because of an inherited genetic disorder called myotonia. This causes the muscles to stiffen when the goat is frightened, and they remain tense for a few seconds.
What has the author Peter Emil Becker written?
Peter Emil Becker has written: 'Dystrophia musculorum progressiva' -- subject(s): Cases, clinical reports, statistics, Genetic aspects, Genetic aspects of Muscular dystrophy, Muscular dystrophy 'Wege ins Dritte Reich' -- subject(s): Antisemitism, Eugenics, History, National socialism, Race relations, Racism 'Humangenetik' -- subject(s): Human genetics 'Myotonia congenita and syndromes associated with myotonia'
Delayed relaxation of a muscle is called?
Myotonia is a delayed relation of a muscle after a strong relaxation or the inability to relax voluntary muscle after vigorous effort. It can affect any muscle group. Repeated effort will be needed to relax the muscle, although the condition usually improves after the muscles have warmed-up.
Describes a neuromuscular disorder characterized by the slow relaxation of the muscles after a voluntary contraction?
Myotoniamyotonia
Heath for a mini schnauzer?
Miniature Schnauzers are generally healthy, but like all breeds, they're prone to certain health conditions. Not all Miniature Schnauzers will get any or all of these diseases, but it's important to be aware of them if you're considering this breed. Cataracts Entropion Progressive Retinal Atrophy (PRA) Urinary Stones Myotonia Congenita Von Willebrand's Disease Congenital Megaesophagus
What can cause Muscle cramps and muscle spaasms?
loss of fluid and potassium in the muscles
What has the author Sergius Morgulis written?
Sergius Morgulis has written: 'Metabolism in myotonia atrophica' -- subject(s): Metabolism, Myotonia atrophica 'Fasting and undernutrition' -- subject(s): Fasting, Metabolism, Food Deprivation
What does myotonia cause in goats?
Myotonic animals will have enlarged muscles. Enlarged muscles (called Hypertrophy of muscles) will mean the animal will have a better carcass at slaughter . These animals may dress out better however they have an inability to escape predators because of the myotonia.
What is the medical term meaning a neuromuscular disorder charaterized by by the slow relaxation of the muscle after a voluntary contraction?
Myotonia
