Myotonic Dystrophy Steinert disease








Risks related to muscle weakness.

Muscular weakness mainly affects the lower leg muscles and can cause difficulty with walking, frequent sprains as well as falls. The disease evolves slowly over a period of several years and in certain cases muscle weakness can affect the thigh and hip muscles confining the patient to a wheelchair. This is relatively rare and usually present only in very severe cases.

Ocular risks

The main ocular risk is the development of cataracts. Individuals suffering from the disease will need regular eye examinations in order to monitor the evolution of cataracts so that they can be operated on when needed. This operation does not need general anaesthetic and is thus low risk.

Cardiac risks

Cardiac signs are inconsistent and can develop over the course of the disease, which justifies heart monitoring and regular ECGs. The main cardiac symptoms are signs of arrhythmia, which can manifest as palpitations or brief losses of consciousness (syncope). In certain cases arrhythmias can cause sudden death. Heart monitoring is important because it can prevent such complications. In cases of severe arrhythmia, it is possible to avoid complications with a pacemaker. With proper care, patients should no longer die from heart problems related to this disease.

Respiratory risks

The weakness of respiratory muscles can cause chronic respiratory failure, which calls for close monitoring of respiratory function. Damage to respiratory organs can be verified after surgery under general anaesthetic. In certain cases, post operative respiratory failure could have deadly results. Thus, it is necessary to let the anaesthetist know that you have Steinert Disease before the operation. Certain medications such as opiates and benzodiazepines must be avoided. Damage to respiratory muscles can also cause sleep apnea and drowsiness.

Digestive risks

As the disease evolves, difficulty with swallowing will develop as well as episodes of choking/aspiration (coughing when taking food or liquids). The risk involved with aspiration follows from the fact that part of the food passes through the lungs instead of going to the stomach. The consequences of repeated aspiration episodes are chronic respiratory infections that can affect pulmonary function. If aspiration occurs, please discuss it with your healthcare provider. Dietary advice can help limit choking episodes thus protecting the lungs from infection.

Risks related to pregnancy

The risks related to pregnancy have been described in a previous chapter.a previous chapter.