Myotonia Congenita is a genetic, neuromuscular condition that affects the skeletal muscles. The hallmark of the disease is failure of initiated contraction to terminate, meaning delayed contraction of muscles. Symptoms of Myotonia Congenita are:
• Difficulty swallowing
• Stiff movements
• Frequent falling
• Difficulty in opening eyelids
• Abdominal muscle weakness
• Chronic joint problems
HOW IS MYOTONIA CONGENITA DIAGNOSED?
The condition can be diagnosed in early childhood or infancy based on clinical evaluation by a general physician along with various specialized lab tests and genetic testing. Electromyography and muscle biopsies help with the diagnosis.
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?
Myotonia Congenita was described by Danish physician named Asmus Julius Thomas Thomsen, who himself suffered from this disease.