A comprehensive set of clinical care recommendations for the diagnosis and management of Duchenne muscular dystrophy (DMD) is now available to medical professionals and families. The guidelines pull together recommendations previously released by other groups, such as the American Academy of Neurology, and clarify some areas in which consensus has been lacking.
Prepared by the DMD Care Considerations Working Group under the auspices of the U.S. Centers for Disease Control and Prevention (CDC), the recommendations consist of a set of standards that doctors and other medical professionals and caregivers can use to design and implement the best plan of care for individuals with DMD.
The guidelines, published online Nov. 30, 2009, in the journal Lancet Neurology, include input from several MDA-affiliated physicians, including neurologist Valerie Cwik, MDA’s medical director.
Guidelines aid in care
Prompt diagnosis and appropriate management of symptoms are crucial to providing the best quality of life for individuals living with DMD.
Comprehensive, standardized care among the population also will facilitate the planning of future clinical trials.
Cardiologist Elizabeth McNally, who also is an MDA research grantee and a member of MDA’s Scientific Advisory Committee, said it’s hoped that the guidelines “will encourage patients and families to think about the circle of caregivers needed for their children,” by spelling out a level of care that will enable children with DMD to grow and live into adulthood.
Physicians in MDA clinics are likely to be aware of these new care recommendations. People with DMD who are not attending an MDA clinic may wish to inform their physicians of the new guidelines.
Read the full recommendations “Diagnosis and Management of Duchenne Muscular Dystrophy” is available on the MDA Web site in printable PDF format.
The guidelines are divided into two parts: Part one (17 pages) addresses diagnosis, and pharmacological and psychosocial management; part two (13 pages) addresses implementation of multidisciplinary care.
The extensively detailed clinical care recommendations are based on analysis by experts in the field. Focusing on diagnosis and management of DMD, their purpose is to help medical professionals and families recognize and deal with the effects of the disease through coordinated treatment orchestrated by a multidisciplinary team.
Here are some highlights from the full recommendations.
Experts identified a multidisciplinary team approach as a “key” aspect of proper care in DMD.
Patients and family members should maintain an open relationship with their primary care coordinator, a role that may be filled by any of a number of specialists, including a neurologist or pediatric neurologist, rehabilitation specialist, neurogeneticist, pediatric orthopedist, pediatrician or primary care physician.
Pharmacological (medication) interventions
Glucocorticoids — also called corticosteroids — used to enhance or preserve muscle strength and function have made a significant impact on the course of the disease.
In the United States, prednisone is the most commonly prescribed corticosteroid. Prednisone is the chemical precursor of prednisolone, which may also be prescribed. Deflazacort, which is not approved for use in the United States, is a slightly different corticosteroid from prednisone/prednisolone.
The guidelines make several recommendations for corticosteroid use.
The medical care of a child with DMD and his family is not complete without support for their psychological well-being.
Physicians should proactively monitor for, prevent and/or manage corticosteroid-related side effects, and should provide families with information on handling emergencies.
Steroid treatment should not begin in any child whose motor skills are still improving, especially if the child is under the age of 2, and should instead aim for what is called the “plateau” phase, when the child no longer is able to improve skills, but before skills have begun to decline.
When long-term corticosteroid treatment is being considered, families must understand that their child may experience side effects; that long-term commitment to monitoring and managing the therapy is necessary; and that it’s important to have the child closely monitored by the health care team.
There are several recommendations with regard to corticosteroid dosing schedules.
Daily dosing, typically given in the morning, is preferred over other methods.
Physicians should reassess patients on low doses of corticosteroids after two to three months and increase if necessary.
In cases where obesity is a concern, deflazacort is preferable to prednisone.
Before abandoning corticosteroid treatment, efforts should be made to find an acceptable dosing regimen with minimum, manageable side effects.
Other drugs and supplements
Use of the steroid oxandrolone, in conjunction with glucocorticoid therapy or alone, is neither necessary nor appropriate.
The use of botulinum toxin A for prevention of contractures is not recommended.
No recommendations were made for the use of supplements, including coenzyme Q10, carnitine, amino acids, anti-inflammatories or antioxidants.
Assessments should be made at the time of diagnosis, before the child begins school, and after a change in function occurs.
Medication for psychiatric symptoms should be considered, with subsequent monitoring and follow-up with medical professionals.
Palliative care should be offered, to prevent suffering and improve quality of life through such measures as pain management, emotional and spiritual support, and the making of medical decisions.
Muscle extensibility and joint contractures
Several measures help preserve function and walking ability and prevent deformities and skin problems.
Joint contractures should be managed by a multidisciplinary team, to include neuromuscular specialists, physical therapists, rehabilitation physicians and orthopedic surgeons.
Physical therapy should include active stretching, active-assisted stretching, passive stretching and other stretching methods, including positioning, splinting, orthoses and standing devices.
Stretching exercises that work each specific joint or muscle group should be performed a minimum of four to six days per week.
Perform regular stretching of the ankle, knee and hip during both walking and non-walking phases.
The upper extremities should be regularly stretched, particularly the finger flexors, wrist, elbow and shoulder muscles, once the individual stops walking.
Custom-made ankle-foot orthoses (AFOs), can be used in the daytime for full time wheelchair users, and at night throughout the individual’s lifetime.
Knee-ankle-foot orthoses (KAFOs) may be used to aid in standing and some walking during the late walking and early non-walking stages.
Resting hand splints are good for patients with tight long finger flexors.
Use standers for late walking and early non-walking stages.
Surgery for lower-limb contractures may be considered when exercises and splinting fail to work. Surgeries should be coordinated between the orthopedic surgeon, physical therapist and orthotist.
Surgical procedures to be considered in the early walking phase include heel-cord lengthening, hamstring tendon lengthening and hip-muscle surgeries.
In the middle walking phase, surgeries that may help prolong the ability to walk include ankle, knee-ankle, and hip-knee-ankle procedures, after which bracing may be needed.
Surgery in the late walking phase is generally ineffective.
Surgery in the early non-walking phase to regain lost function is not appropriate.
Daytime AFOs should not be used when the individual is still walking. KAFOs may be used during the late walking stage, but are not essential.
A manual mobility device (e.g., a manual wheelchair) is appropriate even if the patient is still walking when mobility is required over long distances.
With the loss of function and mobility, a power wheelchair is appropriate — features may include custom seating, positioning components, headrest, power tilt and recline, and adjustable seat height.
Other devices that may become necessary during the late walking and non-walking stages may include elevated lap trays, adaptive straws, hands-free water pouches, power adjustable bed, bathing and hygiene equipment, transfer devices and alternative computer and environmental control access.
Recommendations for exercise
Exercise should be performed under the care of a physician.
Early in the disease course, perform submaximum aerobic activity, with care taken to avoid overexertion and overwork.
Limited research has been carried out on the type of exercise that is optimal in DMD. Some clinicians recommend submaximum aerobic activities, whereas others emphasize avoiding overexertion.
Gentle strengthening activities such as swimming may be undertaken during the walking and early non-walking stages.
Avoid high-resistance strength training during all phases of the disease.
Monitor and modify any activity that causes severe muscle pain or myoglobinuria (cola-colored urine, reflecting the presence of the muscle protein myoglobin).
Spinal care management should involve an experienced spinal surgeon and include scoliosis monitoring, care to maintain spinal support and positioning with the wheelchair seating system, and monitoring for fractures of the vertebrae.
Spinal fusion may be done to straighten the spine, prevent worsening of scoliosis, reduce pain and maintain respiratory function.
Bone health management includes the monitoring of a number of risks (including decreased mobility, muscle weakness and glucocorticoid therapy), and employing appropriate therapies, which may include, but are not limited to, vitamin D treatment and calcium supplementation.
This area is crucial in DMD and should be structured and proactive to include assisted cough and ventilation strategies.
Assessments should be conducted as the disease progresses, but are most needed during the time immediately following loss of walking.
The aim of respiratory care in DMD is to allow timely prevention and management of complications
Noninvasive ventilation may be necessary as respiratory function declines; it it preferable to invasive (tracheostomy) ventilation.
Supplemental oxygen should be used with caution, if at all. Substitution of oxygen therapy for assisted cough and ventilatory support is dangerous.
Manually and mechanically assisted cough and antibiotics are necessary any time the individual has an infection or blood oxygen levels below 95 percent (measured with pulse oximetry).
Cardiac disease, cardiomyopathy and cardiac arrhythmia may manifest as complications in DMD, and are a significant cause of mortality in individuals with the disease.
Baseline measurements of cardiac function should be performed by the age of 6.
Minimum assessment should include an electrocardiogram and a noninvasive heart-imaging study (such as an echocardiogram), and should be performed at least once every two years until 10 years of age. After the age of 10, assessments should occur at least once a year, or when symptoms occur.
Baseline assessment of cardiac function should be done at diagnosis or by the age of 6, especially if this can be done without sedation.
Individuals on glucocorticoid therapy require close monitoring for high blood pressure.
Nutrition, swallowing, speech
Prevention of undernutrition, malnutrition and obesity should be goals throughout life. As DMD progresses, a dietitian or nutritionist can be added to the multidisciplinary team.
A daily multivitamin supplement with vitamin D and minerals is recommended.
Swallowing management should occur if there is a 10 percent weight loss, or when expected age-related weight gain declines. Other symptoms that may necessitate examination include meal times lasting longer than 30 minutes and causing fatigue, drooling, spilling, persistent coughing, choking or gagging. Pneumonia also can indicate swallowing difficulty.
When swallowing difficulties occur, a videofluoroscopic study is necessary to determine cause and avenues for treatment.
An inability to maintain weight and hydration by eating and drinking requires placement of a gastric tube (g-tube).
Speech and language management may be monitored and treated by a speech-language pathologist through exercise and therapy. Treatment may also involve compensatory strategies, voice exercises and speech amplification.
First, the cause of pain must be precisely determined.There are several management guidelines.
Physical therapy, postural correction, orthoses, wheelchair and bed modifications may be tried.
Use of medication requires monitoring for side effects and consideration of potentially harmful drug interactions if the patient takes multiple medications.
On rare occasions, surgery may help.
Surgery and procedures
Surgery should be performed only in a full-service hospital, by a team experienced in patients with DMD, and after condition-specific issues are addressed.
Intravenous (IV) anesthetic agents are strongly recommended as a means of avoiding malignant hyperthermia-like reactions or other complications. Depolarizing muscle relaxants are to be avoided.
An echocardiogram and electrocardiogram must be done before the use of general anesthesia, conscious sedation or regional anesthesia. If local anesthesia is to be used, an echocardiogram must be done if abnormal results were previously recorded.
In patients with respiratory muscle weakness, noninvasive ventilation and assisted cough may be necessary after surgery.
Preoperative training in, and postoperative use of, manual and assisted cough techniques may be necessary or recommended.
Individuals requiring emergency care must make medical professionals aware of their diagnosis, current medications, and respiratory and cardiac status.
The individual’s respiratory care team should be contacted as soon as possible.
If emergency surgery or sedation is necessary, emergency room personnel should be told of any cardiac, respiratory and anesthetic issues.