Management

So far, there is no causal treatment. Physiotherapy is recommended as soon as weakness or myotonia occurs. Orthoses may be helpful to stabilize knees or ankles. Treatment with nonsteroidal antiinflammatory drugs, carbamazepine, or corticosteroids ameliorates muscle pain in single DM1 patients. If myotonia predominates in DM1, mexiletine, phenytoin, or carbamazepine may be beneficial, but no data supporting its effectiveness in DM2 are available. For muscle cramps, quinine sulfate may be tried. However, if cardiac conduction defects are present, antiarrhythmic medication should be avoided. Modafinil reduces daytime sleepiness and improves mood in DM1 patients. Testosterone or growth hormone increases muscle mass but fails to improve muscle strength. As soon as the diagnosis is established, patients should undergo cardiological examinations. Reinvestigation is indicated if baseline investigations are highly abnormal or if patients become cardiologically symptomatic. At least an ECG should be recorded annually. In case of arrhythmias, appropriate therapy is essential. Patients should be regularly evaluated for thyroid dysfunction. If indicated, hormone replacement therapy should be initiated. Diabetes requires adequate therapy. Cataracts may require surgical treatment at some point. Noninva-sive ventilatory support is effective in nocturnal hypoventilation. Because single DM1 patients experience respiratory depression in response to benzodiazepines, opiates, or barbiturates, aggravation of myotonia by depolarizing muscle relaxants or malignant hyperther-mia-like manifestations during anesthesia, general anesthesia should be carried out with caution and the postoperative period needs careful attendance. In DM1 patients, survival to higher ages is markedly reduced. In DM2, progression is slow, and prognosis and life expectancy are more favorable than in DM1. Life expectancy may be reduced only in single cases, mainly if there are malignant rhythm abnormalities.

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