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Channelopathies are inherited diseases caused by defects in cell proteins called ion channels.
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What does channelopathies include?
Channelopathies include a wide range of neurologic diseases, including periodic paralysis , congenital myasthenic syndromes, malignant hypothermia, a form of Charcot-Marie-Tooth disease, and several other disorders.
When did Geoffrey Perkins die?
Geoffrey Perkins died on August 29, 2008, in Marylebone, London, England, UK of Heart condition: channelopathies.
How do advancements in science and technology help in improving one's health and in preventing disease?
This could actually be a controversial topic to discuss. In some respects, technological, and likewise medical advancements may be able to "cure" diseases and relieve symptoms, but it also has the potential to spell the imminent doom for the human race. Advancements in antibiotics, and viral treatment will be able to rid a person of infections, but every time we develop a new product, the pathogens evolve and eventually become immune to our "poisons". This is why new antibiotics are continuously being developed, to treat "resistant" strains of disease. This is based on Darwin theory of Evolution by Natural Selection. The pathogens that survive our new antibiotics are the ones that go on to reproduce, and eventually become the primary infectious pathogen. The inverse principle applies to genetic diseases such as Huntington's corea, or cardiac "channelopathies". As we find new ways to lessen the symptoms of these diseases, the mortality rate for these patients will be reduced allowing them to live more normal, happy, health lives. How is this bad??? If these genetically ill people have children, there is a very good chance that those children will also have the disease. Follow this pattern for 3 or 4 generations, and there's 100 people who have the disease. As this continues, the prevalence of the disease in the population will also increase, until the whole population is affected. This might seem far fetched as the human population is so large and reaches every corner of the planet, but think of how quickly H1N1 2009 spread from Mexico to Europe and Asia. People travel easily and quite frequently in modern society, allowing for a variety of different partners in a variety of different countries, and likewise leaving their illness in all corners of the world.
What has the author Monica Graham written?
Monica Cockett has written: 'Children living in re-ordered families' 'The Exeter family study' -- subject(s): Family life surveys, Divorce, Broken homes, Family, Children of divorced parents
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.
