Myotonia Congenita is a rare genetic disorder in which abnormality of voluntary (skeletal) muscle fiber membranes causes an unusually exaggerated response to stimulation. Referred to as hyper excitability, people with this condition have difficulty relaxing certain muscles after contracting them. These people also experience abnormal enlargement of the muscles leading to a ‘body-builder’ like appearance.
HOW IS MYOTONIA CONGENITA DIAGNOSED?
The health care provider may ask if there is a family history of myotonia congenita. The various tests to diagnose the condition include:
• Electromyography (EMG, a test of the electrical activity of the muscles)
• Genetic testing
• Muscle biopsy
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?
For people with a history of this disease, genetic counselling is highly suggested. Doing so helps to minimise the risks of the child being affected by the same problem.