myotonia वाक्य
उदाहरण वाक्य
मोबाइल
- Phenotypes are quite variable, and manifestations can include weakness, abnormal gait, myotonia, cramps, and scoliosis.
- In myotonia congenita, the term reflects that the disease is genetically present from birth, while the onset may be delayed.
- Becker disease usually appears later in childhood than Thomsen disease, and causes more severe myotonia, muscle stiffness and transient weakness.
- This model is often used in scientific work with muscular dystrophy, and displays myotonia due to lack of functional chloride channels.
- Mutations in the gene are associated with hypokalemic periodic paralysis, hyperkalemic periodic paralysis, paramyotonia congenita, and potassium-aggravated myotonia.
- In people with congenital myotonia due to a mutation in CLCN1, the ion channel admits too few chloride ions into the cell.
- Affected individuals display a wide range of symptoms including myotonia, skeletal muscle weakness and wasting, cardiac conduction abnormalities, and cataracts.
- The goats do not truly " faint " in any sense of the word, as they never lose consciousness because of their myotonia.
- An increase in muscle tone ( myotonia ) of certain muscle groups, occurring voluntarily and involuntarily, begins during this phase among both sexes.
- Both patients had been seen by skeletal muscle chloride channel which is the underlying cause of myotonia congenita revealed that both patients had mutations in this gene.
- The channelopathies of human skeletal muscle include hyper-and hypokalemic ( high and low potassium blood concentrations ) periodic paralysis, myotonia congenita and paramyotonia congenita.
- However, in recent times, as more of the individual mutations that cause myotonia congenita are identified, these limited disease classifications are becoming less widely used.
- Patients report that repeated contraction of muscle alleviates present myotonia with each contraction, such that myotonia is almost absent after a few contractions of the same muscle.
- Patients report that repeated contraction of muscle alleviates present myotonia with each contraction, such that myotonia is almost absent after a few contractions of the same muscle.
- Generally, repeated contraction of the muscle can alleviate the myotonia and relax the muscles thus improving the condition, however this is not the case in Paramyotonia congenita.
- According to Phillip Sponenberg, an authority on myotonia congenita and Tennessee fainting goats, myotonia has been extensively studied in humans and somewhat less extensively in other species.
- According to Phillip Sponenberg, an authority on myotonia congenita and Tennessee fainting goats, myotonia has been extensively studied in humans and somewhat less extensively in other species.
- Because several CLCN1 mutations can cause either Becker disease or Thomsen disease, doctors usually rely on characteristic signs and symptoms to distinguish the two forms of myotonia congenita.
- The drug inhibits the vicious circle of myotonia by decreasing pain, ischaemia, and hypertonia in skeletal muscles, thus alleviating stiffness and spasticity, and facilitating muscle movement
- Potassium-aggravated myotonia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
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