What is Eulenburg Disease?

Eulenburg Disease which is also known by the name of Paramyotonia Congenita is an extremely rare genetic diseased condition which normally affects the skeletal muscles of the body . This condition is not progressive meaning that it does not aggravate with time and the symptom do not become severe with the passage of time . The symptoms of Eulenburg Disease can ordinarily be come across at the clock time of babyhood .

The primary presenting feature film of Eulenburg Disease is bouts of muscle harshness and myotonia . These symptom tend to worsen with picture to cold-blooded weather and ameliorate with heat energy . They also tend to be triggered by any sort of strong-arm activity . The muscles that tend to get most affected by Eulenburg Disease are the muscular tissue of the cervix , face , arms and hands , although the muscles of the back and muscles utilized for breathing also be given to get affected with Eulenburg Disease .

Affected individuals also tend to have periods where they have no muscular tissue whole tone at all . Hypertrophy of the muscle is also something that is usually find out in individuals with Eulenburg Disease .

There is no specific handling for Eulenburg Disease but with adhering to proper balanced dieting and modifications of lifestyle , the unnatural soul may result a normal life despite Eulenburg Disease .

This condition is follows an autosomal rife pattern of inheritance meaning that a single copy of the defective gene is enough for an individual to develop Eulenburg Disease .

What are the Causes of Eulenburg Disease?

The main cause of Eulenburg Disease is variation in the cistron SCN4A. It follows an autosomal dominant pattern of heritage . In some character , Eulenburg Disease can also be caused due to de novo or ad-lib mutant of the gene responsible for causing Eulenburg Disease .

This ordinarily find in the sperms or egg cells and occurs at the clip of conception of pregnancy . In such cases , this disorder is not inherit . The SCN4A factor is responsible for the performance of the emaciated muscles of the eubstance .

The skeletal muscles are responsible for campaign of the body by pull on the tendons which are attach to the clappers making the body move . Mutation in the SCN4A cistron issue in mar performance of skeletal sinew thus making the muscularity stiff and affecting movement of the body which is the characteristic feature of Eulenburg Disease .

What are the Symptoms of Eulenburg Disease?

The primary presenting feature of Eulenburg Disease is muscle stiffness and myotonia or inability of the muscles to relax after contract . The muscles that are touch the most are the facial muscles , muscles of the neck and upper extremities , heftiness used for swallowing and external respiration , and brawn of the back .

The symptoms of Eulenburg Disease get apparent normally in the other childhood and by the time the child attain teenage years it is at its peak . The rigour of the symptom does not worsen and the disease term does not progress with time .

The badness of the muscle stiffness is varying and take issue from individual to individual but tend to decline in colder temperatures and relieved by quick atmospheric condition .

The symptoms also tend to get worse with activity relieved by residuum . In some cases , the muscle rigorousness may come on dead and tend to may activities of day-by-day living difficult to perform .

Affected individuals may also it difficult to countenance go of diminished aim like a pen after holding it for a period of time due to muscle stiffness as a result of Eulenburg Disease . In some example , the unnatural individual may also experience shortness of breath and tightness in the thorax as a result of Eulenburg Disease .

How is Eulenburg Disease Diagnosed?

For diagnosis of Eulenburg Disease , a thorough clinical rating and history pickings will be done . This will be to assess the rigor of the symptoms and the continuance of it .

The physician may also recommend doing an electromyography mental testing to tick the status of the muscles and to look for any muscle impuissance . A positive electromyogram will point towards a diagnosis of Eulenburg Disease but for confirmation alar testing may be done which will intelligibly show mutation in the SCN4A gene confirm the diagnosis of Eulenburg Disease .

How is Eulenburg Disease Treated?

The handling of Eulenburg Disease is purely symptomatic . With adhering to a balanced diet and modifications of activities fend off cool places and other activities that tend to aggravate the symptoms the touched individual can precede a normal life despite having Eulenburg Disease .

The affected individual is also recommended to have in high spirits intake of potassium in their dieting which incline to alleviate most of the symptoms of Eulenburg Disease .

The primary intent of intervention is to minify the symptom as much as potential and permit the patient lead as much a normal life as potential despite have Eulenburg Disease . In some cases , medicine like mexiletine and acetazolamide has also shown some effectiveness in intervention of Eulenburg Disease .