What is Eulenburg Disease?
Eulenburg Disease which is also known by the name of Paramyotonia Congenita is an extremely rare genetic pathological condition which normally affects the skeletal muscles of the body. This condition is not progressive meaning that it does not worsen with time and the symptoms do not become severe with the passage of time. The symptoms of Eulenburg Disease can normally be seen at the time of infancy.
The primary presenting feature of Eulenburg Disease is bouts of muscle stiffness and myotonia. These symptoms tend to worsen with exposure to cold weather and improve with heat. They also tend to be triggered by any sort of physical activity. The muscles that tend to get most affected by Eulenburg Disease are the muscles of the neck, face, arms and hands, although the muscles of the back and muscles utilized for breathing also tend to get affected with Eulenburg Disease.
Affected individuals also tend to have periods where they have no muscle tone at all. Hypertrophy of the muscles is also something that is commonly seen in individuals with Eulenburg Disease.
There is no specific treatment for Eulenburg Disease but with adhering to proper balanced diet and modifications of lifestyle, the affected individual may lead a normal life despite Eulenburg Disease.
This condition is follows an autosomal dominant 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 mutation in the gene SCN4A. It follows an autosomal dominant pattern of inheritance. In some cases, Eulenburg Disease can also be caused due to de novo or spontaneous mutation of the gene responsible for causing Eulenburg Disease.
This usually happens in the sperms or egg cells and occurs at the time of conception of pregnancy. In such cases, this disorder is not inherited. The SCN4A gene is responsible for the functioning of the skeletal muscles of the body.
The skeletal muscles are responsible for movement of the body by pulling on the tendons which are attached to the bones making the body move. Mutation in the SCN4A gene results in impaired functioning of skeletal muscles thus making the muscles 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 contracting. The muscles that are affected the most are the facial muscles, muscles of the neck and upper extremities, muscles used for swallowing and breathing, and muscles of the back.
The symptoms of Eulenburg Disease get apparent normally in the early childhood and by the time the child reaches teenage years it is at its peak. The severity of the symptoms does not worsen and the disease condition does not progress with time.
The severity of the muscle stiffness is variable and differs from individual to individual but tend to worsen in colder temperatures and relieved by warmer weather.
The symptoms also tend to get worse with activity relieved by rest. In some cases, the muscle stiffness may come on suddenly and tend to may activities of daily living difficult to perform.
Affected individuals may also it difficult to let go of small objects like a pen after holding it for a period of time due to muscle stiffness as a result of Eulenburg Disease. In some cases, the affected individual may also experience shortness of breath and tightness in the chest as a result of Eulenburg Disease.
How is Eulenburg Disease Diagnosed?
For diagnosis of Eulenburg Disease, a thorough clinical evaluation and history taking will be done. This will be to assess the severity of the symptoms and the duration of it.
The physician may also recommend doing an electromyography test to check the status of the muscles and to look for any muscle weakness. A positive EMG will point towards a diagnosis of Eulenburg Disease but for confirmation alar testing may be done which will clearly show mutation in the SCN4A gene confirming the diagnosis of Eulenburg Disease.
How is Eulenburg Disease Treated?
The treatment of Eulenburg Disease is purely symptomatic. With adhering to a balanced diet and modifications of activities avoiding cooler places and other activities that tend to aggravate the symptoms the affected individual can lead a normal life despite having Eulenburg Disease.
The affected individual is also recommended to have high intake of potassium in their diet which tends to alleviate most of the symptoms of Eulenburg Disease.
The main aim of treatment is to decrease the symptoms as much as possible and allow the patient lead as much a normal life as possible despite having Eulenburg Disease. In some cases, medications like mexiletine and acetazolamide has also shown some effectiveness in treatment of Eulenburg Disease.