Myotonic Dystrophy: Treatment, Cost and Side Effects

Myotonic dystrophy is a genetic disorder affecting muscle function. The disorder commonly begins when the person is adult. The worsening condition eventually leads to weakness and loss of muscles. The disorder is characterised by prolonged muscle tensing which refers to contraction of muscles and not being able to relax. The disorder is caused mainly because of mutation in either DMPK gene or in CNBP (ZNF9) gene. The muscles of hands, lower legs, face and neck get wasted and weakened. Myotonic dystrophy in men affects their hormones causing balding and impotency or infertility. Myotonic dystrophy in adults affects their brains causing impairment of social activities like participating in work, attending school or other activities. It also affects cognitive abilities, sleep patterns and personality. The disorder also affects breathing and swallowing as the diaphragm, lung muscles and esophagus also weakens. People also get early cataracts because of chemical changes in the eye lens, making the vision cloudy. The general appearance of a person gets affected as the head, face and neck muscles become significantly weak. The resulting appearance includes drooping eyelids, hollow temples, thin face etc. Heart muscles are affected causing conduction block thereby affecting heartbeat. Myotonic dystrophy cannot be cured or treated completely. The symptoms can only be managed with certain medications, physical activity, orthotics and mobility aids and adaptive equipment.

Once the symptoms start appearing, the patient will be diagnosed by a physical examination which will identify the pattern of muscle wasting like a characteristic appearance of the face that shows weakness and wasting of the neck and jaw muscles. Laboratory tests like electromyography (EMG) tests and blood test to identify any gene alteration. Myotonic dystrophy does not have a permanent cure or treatment. Only the symptoms can be managed like placing pacemaker for maintaining proper cardiac conduction, a sleep study non-invasive ventilation is used to help patients with sleep apnea and modafinil can be used as central nervous system stimulant. Physical activity like aerobic training helps patients increase their muscle strength. Aerobic and strength training are also helpful in promoting cardiorespiratory and muscle function. These trainings prevent further dystrophy of the muscles. Orthotics are also used for several muscle management like neck braces are prescribed for people with weak neck muscles, ankle-foot-orthotics are prescribed for patients with impaired limbs who get impaired gait pattern. Mobility aids are also used like handled sponges and buttonhooks for proper functioning of hands. Occupational therapists help with home adaptations and assistive devices if required. Impaired vision can be improved by surgically removing the cataracts.

A person who starts experiencing the symptoms of myotonic dystrophy like weak muscles, drooping eyelids, frontal balding in men, hollow temples, changed gait patterns due to weak limb muscles, impaired heart muscles causing blocked electrical conduction and other cardiorespiratory problems, will be eligible for treatment.

Any person having cardiorespiratory problems or cataract or feeling weakness in hands and foot will not be eligible for the treatment. Diagnostic tests must prove the disorder. Only then they will be eligible for treatment.

Yes there can be some side effects like cardiac arrhythmias due to drugs like imipramine, taurine and clomipramine.

There cannot be any post treatment guideline because the treatment options are on-going methods to manage the symptoms. So, apart from taking medicines and placing pacemaker in the heart or getting operated for cataract removal, physical activity is required.

The disorder is a genetic one and cannot be cured or treated completely. So, the treatment will be required for life long.

The price of treatment for myotonic dystrophy in India ranges from Rs. 500 to Rs. 10,000 depending upon the type of treatments required for each patient.

It cannot be said that the results will be permanent because the treatment options ae mainly for controlling and managing the symptoms.

There is no alternative to the treatment. Although, doing yoga may help in physical activity.