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Myotonia Congenita is a rare genetic disorder in which an abnormality of skeletal muscle fiber membranes causes an unusually exaggerated response to stimulation. The two major types of Myotonia Congenita are known as Thomsen disease and Becker disease. While these conditions are majorly distinguished by the severity of their symptoms and their patterns, some of the common symptoms of Myotonia Congenita include gagging, difficulty swallowing, frequent falling, and many more.
HOW IS MYOTONIA CONGENITA DIAGNOSED?
Diagnosis would be done by a Rheumatology expert who would do a few tests like X-ray and scans to check for muscle damage.
HOW IS MYOTONIA CONGENITA TREATED?
The treatment is directed towards the symptoms. Certain medications may be prescribed to help diminish muscle stiffness and other symptoms resulting from myotonia. Special exercises are recommended to relieve the stiffness of muscles and other symptoms associated with the condition.
DID YOU KNOW?
The two major types of myotonia congenita are known as Thomsen disease and Becker disease. These conditions are distinguished by the severity of their symptoms and their patterns of inheritance. Becker disease usually appears later in childhood than Thomsen disease and causes more severe muscle stiffness, particularly in males.