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What doctors treat Paramyotonia congenita?
Paramyotonia congenita is diagnosed and treated by neurologists.
What causes Paramyotonia congenita?
Paramyotonia congenita is believed to be caused by a defect in the chloride channels of the muscles.
What type of hereditary condition is Paramyotonia congenita?
Paramyotonia congenita is passed on in families as an autosomal dominant trait. This means that males and females are affected equally
What are the symptoms of Paramyotonia congenita?
Symptoms of paramyotonia congenita include muscle stiffness and weakness that worsens with exercise or cold temperatures. Individuals may experience muscle pain, cramps, and difficulty relaxing muscles after contraction. These symptoms are typically seen in the face, neck, and hands.
What is the average age of onset for Paramyotonia congenita?
The average age of onset for Paramyotonia congenita is typically around 10 years old, but symptoms can present at any age from infancy to adulthood. It is an inherited condition that affects skeletal muscle function and can cause muscle stiffness and weakness exacerbated by cold temperatures or exercise.
What are the odds of passing Paramyotonia congenita to a child?
if one parent has the trait, the offspring have a 75% chance of also having the condition
What is the prognosis for Paramyotonia congenita?
Although annoying, it does not cause significant disability, and the patient usually learns to make lifestyle adjustments that prevent exacerbations (for example, dressing warmly and avoiding exposure to cold).
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 has the author J Priman written?
J. Priman has written: 'Dystopia renis congenita als altavistische erscheinung' -- subject(s): Kidneys
Myotonia congenita?
DefinitionMyotonia 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 diseaseCauses, 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 swallowingGaggingStiff movements that improve when they are repeatedShortness of breath or tightening of the chest at the beginning of exerciseChildren 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 testingMuscle biopsyTest of the electrical activity in muscles (EMG)TreatmentTreatment for symptoms includes:MexiletinePhenytoinProcainamideExpectations (prognosis)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.ComplicationsAspiration pneumonia caused by swallowing difficultiesFrequent choking, gagging, or difficulty swallowing in an infantAbdominal muscle weaknessChronic joint problemsCalling your health care providerCall 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 causes familiar periodic paralysis?
Familiar (genetic) Periodic paralysis comprises a group of rare genetic diseases that cause symptoms such as muscle weakness, muscle stiffness, and complete paralysis. While there more than 30 different strains of periodic paralysis have been identified, the most common include: * Hypokalemic Periodic Paralysis- Caused by reductions in potassium levels, causing the patient to experience weakness and paralysis after eating certain foods or strenuous exercise. * Thyrotoxic Periodic Paralysis- Associated with an overactive thyroid gland. * Hyperkalemic Periodic Paralysis- Weakness, paralysis, and stiffness is experienced after fasting or exercise. * Paramyotonia Congenita- Causes muscle stiffness or weakness as a result of cold temperatures, activity, or low potassium. * Potassium Aggravated Myotonia- Causes muscle stiffness as a result of ingesting potassium. * Malignant Hyperthermia-Caused by a reaction to drugs used in general anaesthetics. While diagnosis of partial paralysis can be extremely difficult, research is offering some new developments. Incidents of partial paralysis can be avoided by staying away from certain hormones, foods, and medications.
