From the Guidelines
The most effective treatment for managing symptoms of Myotonic Dystrophy (DM) of Steinert is a multidisciplinary approach, including medications such as modafinil for excessive daytime sleepiness, mexiletine for muscle stiffness, and standard medications for cardiac complications, along with physical therapy, occupational therapy, and regular exercise. This approach is based on the most recent and highest quality study available, which suggests that modafinil is effective in treating hypersomnia secondary to myotonic dystrophy in adults, with improvements in excessive daytime sleepiness, quality of life, and work/school performance/attendance 1.
Medications for Symptom Management
- Modafinil (200-400mg daily) is recommended for excessive daytime sleepiness, as it has been shown to improve symptoms in patients with myotonic dystrophy 1.
- Mexiletine (typically 150-200mg three times daily) can help manage muscle symptoms by reducing muscle stiffness through sodium channel blockade.
- Phenytoin (300mg daily) or carbamazepine (200mg twice daily) may also be effective in managing myotonia.
Cardiac Complications
Cardiac manifestations are present in approximately 80% of DM1 patients, and the risk of developing cardiac disease is higher in younger patients 1.
- Standard medications like beta-blockers, ACE inhibitors, or pacemaker implantation may be necessary to manage cardiac complications, including conduction defects and arrhythmias.
- Regular cardiac monitoring is crucial to prevent sudden death and severe cardiac arrhythmias.
Multidisciplinary Approach
A multidisciplinary approach to treatment is essential, including:
- Physical therapy and occupational therapy to maintain muscle strength and function.
- Regular exercise tailored to the patient's abilities to prevent muscle atrophy.
- Respiratory support, ranging from non-invasive ventilation at night to comprehensive respiratory care in advanced cases.
- Regular multidisciplinary follow-up, including cardiac, respiratory, endocrine, and ophthalmologic evaluations.
- Genetic counseling should be offered to patients and families due to the hereditary nature of the condition and its autosomal dominant inheritance pattern.
From the Research
Effective Treatments for Myotonic Dystrophy (DM) of Steinert
The following are some effective treatments for Myotonic Dystrophy (DM) of Steinert:
- Cardiac and respiratory lifetime follow-up is necessary for MD1 patients 2, 3
- Before any surgery under general anaesthesia, a respiratory evaluation must be done 2, 3
- Dysphagia must be screened periodically 2, 3
- Genetic counselling must be offered to patients and relatives 2, 3
- Opioid-free general anesthesia is recommended for patients with Steinert syndrome (myotonic dystrophy) to avoid complications such as respiratory depression and aspiration 4
- Mexiletine, a class 1b antiarrhythmic sodium antagonist, can be used to improve clinical myotonia in patients with myotonic dystrophy and non-dystrophic myotonia 5
- Cardiac pacing may be necessary for patients with cardiac conduction abnormalities 6
Management of Myotonic Dystrophy
The management of myotonic dystrophy requires a multidisciplinary approach, involving neurologists, pulmonologists, cardiologists, endocrinologists, neuropaediatricians, and geneticists 2, 3
- A systematic literature review and consensus guide can help establish recommendations for the diagnosis, prognosis, follow-up, and treatment of the complications of MD1 2, 3
- The genetic diagnosis should quantify the number of CTG repetitions 2, 3
Anesthetic Management
The anesthetic management of patients with myotonic dystrophy requires careful consideration of the potential complications, such as hypersensitivity to anesthetic drugs and muscle relaxants 4
- Opioid-free anesthesia, using drugs such as dexmedetomidine, can be an effective and safe approach for patients with myotonic dystrophy 4