What cell is affected by myotonia congenita?
What cell is affected by myotonia congenita?
Therefore, “7q35” refers to band 35 on the long arm of chromosome 7. Thomsen and Becker types myotonia congenita are considered “ion channel diseases” or “channelopathies”, meaning that they result from abnormalities in the flow of certain ions across muscle cell membranes.
What is myotonia congenita how does it affect the body what muscles does it target?
Myotonia congenita is an inherited disorder that causes muscle stiffness and muscle enlargement. It affects what most people think of as muscle, the type that can be contracted to move the various parts of the body. Myotonia refers to delayed relaxation after muscle contraction, which can cause muscle stiffness.
How does myotonia congenita affect the cell membrane?
Myotonia congenita is known as a chloride channel disease. It affects the flow of ions across muscle cell membranes. Ions are negatively or positively charged particles. CLCN1 helps maintain the normal function of chloride channels in muscle cell membranes.
How do you treat myotonia congenita?
Most people with myotonia congenita don’t require special treatments. Stiff muscles usually resolve with exercise, or light movement, especially after resting. For individuals whose symptoms are more limiting, doctors have had some success with medications such as quinine, or anticonvulsant drugs such as phenytoin.
What is the cause of myotonia congenita?
What causes myotonia congenita? This disease is caused by mutations in the gene for a chloride channel that’s necessary for shutting off the electrical excitation that causes muscle contraction.
Why is myotonia congenita?
Is myotonia congenita the same as myotonic dystrophy?
In myotonia congenita, unlike myotonic dystrophy, there is no element of progressive muscular weakness and wasting, cardiac disease, eye abnormalities, endocrine disturbances, or dementia. The life expectancy is the same in patients with myotonia congenita, both dominant and recessive, as in normal individuals.
What is the effect of myotonia congenita?
The effect of the disorder is a diminished function of chloride in the muscles, which results in a delay in the initiation of muscle activity and a prolonged muscle contraction (action) after a muscle moves. This delayed relaxation and prolonged contraction is what causes the characteristic muscle stiffness of myotonia congenita.
Why does myotonia cause muscle contractions?
The altered channels cannot properly regulate ion flow, reducing the movement of chloride ions into skeletal muscle cells. This disruption in chloride ion flow triggers prolonged muscle contractions, which are the hallmark of myotonia. The two forms of myotonia congenita have different patterns of inheritance.
Can a person with myotonia congenita be a bodybuilder?
Often, people with myotonia congenita have unusually large muscles, called hypertrophy. These big muscles can give you the appearance of a bodybuilder, even if you don’t lift weights. If you have Becker disease, your muscles will also feel weak.
What is myotonia and how is it treated?
Treatment. Myotonia is commonly seen in individuals with myotonic muscular dystrophy, myotonia congenita, and in people who have one of a group of neurological disorders called the channelopathies, which are inherited diseases that are caused by mutations in the chloride sodium or potassium channels that regulate the muscle membrane.
