A genetic disease, Myotonia congenita (MC) affects the skeletal muscles and also ruptures the process of its relaxation
Myotonia congenita is neuromuscular channelopathy that victimizes the patient’s skeletal muscles. Basically the muscles cannot relax at the normal time and face rigidity that reflects non flexible movements of them. CLCN1 is a code of gene in one of the proteins where the mutation takes place.
Mutations in ion channel part of gene is responsible to shut off the electrical excitation which is normally in muscles and causes the fiber membranes of the muscles to produce an exaggerated and unusual response to the urge and stimulation which leads to hyper excitability.
The protracted muscle tightening, which occur mainly face recessive mutations in the leg also are seen in face, hands and sometimes eyes. They are aggravating more due to inactivity and cold. Therefore sometimes a warm up activity can soothe this condition for little time. But this effect reduces as the patient rests.
Patients having myotonia congenita often are the ones who fall due to hasty movements as they get more prone to such disability due to the inability of stabilizing themselves which causes them to lose balance. Ones a person with this disorder falls, they may go through complete or partial paralysis which will recover when the event is done with. More impulsive disorder kind in this category suffers from lengthy period of paralysis.
Becker type and Thomsen disease in myotonia congenita are two parts or categories in this disorder. These diseases differ in the symptoms and severity of the condition and also the inheritance pattern. In childhood one may face the Becker disease and in adulthood, Thomsen disease will lead to more of pain and stiffness in the muscles (myotonia).
In Becker type, patients have attacks which are temporary in nature which leads to weakness in muscles most often in hands or arms. This happens after stipulated rest periods. There are likely 80 mutations which are responsible for the disorder and hence the condition in the patients differs from person to person. The ion channels can be influenced due to factors that are intrinsic and extrinsic in nature.
Early symptoms may be gagging and swallowing difficulty. Frequent falls and emerging stiffness in the muscles are the other signs. Some other disorders which combine with myotonia congenita are joint problems which may be chronic, muscles weakness in the abdominal region.
Genetic counseling and some physical ability therapies may improve the patient’s condition over time. Some certified drugs are also available in clinics to deal with myotonia congenita.