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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 of Myotonia Congenita is done during infancy or early childhood. Rheumatologists may perform complete physical examination and also evaluate your family history. Diagnostic evaluation like muscle biopsies may help confirm diagnosis
HOW IS MYOTONIA CONGENITA TREATED?
There is no treatment for Myotonia Congenita, but symptoms can be treated. Treatment may aim at reducing muscle stiffness through physical therapy. Painkillers may be prescribed for joint pains. Early intervention and diagnosis in children helps affected children reach their full growth potential
DID YOU KNOW?
Myotonia Congenita was described by Danish physician named Asmus Julius Thomas Thomsen, who himself suffered from this disease.