What is myotonia Congenita?

MYOTONIA CONGENITY is a genetic disorder that causes human muscles to be tense and abnormally relax. An individual with a disease cannot voluntarily release certain muscles, causing it to hold in a fixed position. Possible symptoms include pain, frequent convulsions and mobility problems. Congentity myotonia may be present at birth or develop in early childhood and usually persists throughout the patient's life. Depending on the severity of the symptoms, treatment may consist of regular doses of drug relaxation, anticonvulsants and ongoing physical therapy.

muscle movement problems associated with myotonia Congenite are caused by abnormalities in the way the electrical impulses are transmitted in the body. The CLCN1 gene normally produces proteins that stabilize electrical activity inside the muscles, allowing them to download and relax on command. In the case of myotonia Congenita, a defect in the CLCN1 gene has missing or non -functional proteins.

exist forms of myotonia whatNgenite that differs in the way they are inherited. A more common form called Thomsen disease is an autosomal dominant disorder that usually causes symptoms from birth. It can be inherited if only one parent carries a mutated copy of the CLCN1 gene. Becker's disease is an autosomal recessive disorder that requires both parents to have defective copies of the gene. It usually occurs aged from four and 12 years and tends to cause more weakening symptoms than Thomsen Claly.

small children with both form of illness can experience temporary, sporadic muscle cramps that cause their legs or arms to solidify. Episodes generally last only a few seconds at a time, and the movements tend to be easier when they repeat. If the face, neck and chest muscles are affected, the patient may sometimes have breathing and food problems. Chronic joint and muscle pain are common in myotonia with congenite. Excessive muscles have tEndence become large and well defined as a child, which can provide a very muscular look.

In most cases, medicines can be alleviated with the severity and frequency of muscle contraction problems. Patients may be prescribed daily doses of drugs such as phenytoin or mexiletine that reduce electrical activity in the nerves that supply skeletal muscles. Physical therapy can help many children, adolescents and adults with myotonia Congenity to learn how to remain fully mobile despite their conditions. Since the symptoms improve with recurring movements, patients can learn exercise so that they can engage in certain activities to reduce the chances of symptomatic episodes.