What is paramyotonia Congenita?

paramyotonia Congenite, also called Eulenburg's disease or paramyotonia Congentity of Eulenberg, is a rare congenital neuromuscular disorder in which the muscles are painted after contraction. In the paramyotonia Congenity, unlike other neuromuscular disorders, is the difficulty of muscle relaxation, a symptom called myotonia , paradoxical, which means it is more impaired than improved by prolonged exercises. Eulenburg disease affects less than one of every 100,000 people.

Patients with Eulenberg's disease and other myotonia may have difficulty, such as the release of an object that have gripped or built from a squat position. This may take considerable effort or time to relax muscles and stiffness or weakness of muscles can result in the muscle no longer disturbed. Paramyotonia Congenite usually does not cause muscle atrophy, unlike some related conditions.

paramyotonia Congenite is also characterized by the tendency of COLD temperature to induct myotonia. Most often ovIt lifts the muscles of the face and upper limbs. Although paradoxical myotonia associated with Eulenburg's disease can lead to muscle weakness, persistent weakness is not a symptom of this particular condition. In addition to exercise and low temperatures, some patients may find that hunger or consumption of certain foods, especially those who are rich in potassium, can cause myotonia.

Congenite paramyotonia is caused by a Mutation in the SCN4A gene that encodes one of the sodium proteins responsible for muscle contraction. All people with mutation eventually develop a disorder. Most of the suffering are beginning to show symptoms at the age of ten.

Many patients with paramyotonia Congenite require no medical treatment. The condition can often be managed simply by avoiding what triggers myotonia and muscle weakness. Some patients can be prescribed medicines such as Mexilein or acetazolamide to relieve muscle stiffness.

Eulenburg's disease is traditionally considered a separate condition from other sodium channel myotons and from hyperkalaemic periodic paralysis, a genetic disorder in which cold weather causes uncontrollable shaking with subsequent paralysis. However, it is now being discussed whether these different genetic myotonia are different conditions or whether it belongs to the spectrum of disorders.