For boys who use power wheelchairs, take prednisone, or are not very active, excessive weight gain can become a problem. For these boys, caloric intake should probably be somewhat restricted to keep weight down. Obesity puts greater stress on already weakened skeletal muscles and the heart. Doctors have found that a low-calorie diet does not have any harmful effect on the muscles.
A combination of immobility and weak abdominal muscles can lead to severe constipation , so the diet should be high in fluids and fiber, with fresh fruits and vegetables dominant. Patients with DMD may also develop dysphagia difficulty with swallowing. When dysphagia is suspected, the patient should be referred to a speech and language therapist for swallowing assessment. In the case that a patient experiences weight loss, dehydration, malnutrition, aspiration, and moderate or severe dysphagia, the patient may need a gastrostomy tube a feeding tube inserted directly to the stomach.
Individuals taking prednisone and those with heart problems may need a sodium-restricted diet. Exercise can help build skeletal muscle, keep the cardiovascular system healthy, and contribute to feeling better.
But in muscular dystrophy, too much exercise could damage muscle. Consult with your doctor about how much exercise is best. A person with DMD can exercise moderately but should not go to the point of exhaustion. Many experts recommend swimming and water exercises aquatic therapy as a good way to keep muscles as toned as possible without causing undue stress.
The buoyancy of the water helps protect against certain kinds of muscle strain and injury. Before undertaking any exercise program, make sure to have a cardiac evaluation. DMD is associated with increased rates of autism spectrum disorders, attention deficit hyperactivity disorder, anxiety, and depression, which may also require adequate medical management. Medications belonging to a group known as corticosteroids are the mainstay of pharmacologic treatment as they have been found to be effective in slowing the course of DMD.
Children should be started on these medications before substantial physical decline. The corticosteroids prednisone and deflazacort are beneficial in the treatment of DMD. The FDA on Feb. The potency of 1 mg of prednisone is approximately equivalent to 1. Corticosteroids also reduce the risk of scoliosis and delay the loss of ambulation. Three studies found that glucocorticosteroid treatment was associated with improved survival. However, a fourth study did not show a clear association to the increase in survival.
Pulmonary function has also been shown to improve with prednisone treatment vs. Glucocorticoids may delay the development of scoliosis and reduce the need for surgery to correct scoliosis in patients with DMD.
The risk of developing scoliosis may be significantly lower for patients receiving daily deflazacort treatment vs. Fracture prevalence is similar between patients who are treated with glucocorticoids and those who are not. Chronic use of corticosteroids is part of the standard of care for DMD, but such treatment can lead to side effects such as weight gain, short stature, acne, behavioral changes, osteoporosis, and long bone and vertebral compression fractures.
It is appropriate to monitor patients on corticosteroid therapy with periodic spine imaging as they may be asymptomatic. Children who develop vertebral or long bone fractures should be referred to a pediatric endocrinologist or bone specialist. Rapid withdrawal of corticosteroids can result in life-threatening complications.
The PJ Nicholoff Steroid Protocol guides withdrawal from corticosteroids following long-term treatment. In September , the US Food and Drug Administration FDA granted accelerated approval of Eteplirsen, an exon skipping drug that has shown to increase dystrophin in patients with a mutation of the dystrophin gene amenable to exon 51 skipping.
Ataluren also known as PTC is an orally administered drug being developed for the treatment of genetic defects caused by nonsense mutations, allowing bypass of the nonsense mutation and continuation of the translation process to production of a functioning protein, which has been demonstrated in several studies.
Ataluren is licensed in the European Union and United Kingdom to treat patients age 2 years and older with DMD caused by nonsense mutations. The most common adverse effect of ataluren is vomiting. Others include decreased appetite, weight loss, headache, hypertension, cough, nose bleeding, nausea, upper abdominal pain, flatulence, abdominal discomfort, constipation, rash, limb pain, musculoskeletal chest pain, blood in urine, involuntary urination, and fever.
Some vaccines should be given before the start of glucocorticoid treatment, as some are contraindicated in patients with DMD receiving high-dose daily corticosteroids. Ask your doctor for more information.
A physical therapy program is usually part of the treatment for DMD. Your MDA Care Center physician will refer you to a physical therapist for a thorough evaluation and recommendations. The primary goals of physical therapy are to allow greater motion in the joints and to prevent contractures and scoliosis.
While physical therapy emphasizes mobility and, where possible, strengthening of large muscle groups, occupational therapy focuses on specific activities and functions. Occupational therapy can help with tasks for work, recreation, or daily living, such as dressing or using a computer. Your GP or the healthcare professional treating you may know of any recent developments in healthcare that may benefit you.
Trials are now in progress in the UK and the Netherlands to see if "exon skipping" may be a useful way of treating Duchenne MD. Exons are sections of DNA that contain information for proteins. In Duchenne and Becker MD, some of the exons are missing or duplicated, which can interfere with the dystrophin protein being produced. Researchers are currently investigating ways of "skipping" additional exons in the dystrophin gene.
This could mean that more dystrophin would be produced, reducing the severity of MD symptoms. Current trials are focused on treatment that would apply to Duchenne MD, but it may become applicable to Becker MD in the future. Stem cells are cells that are at an early stage of development. This means they have the ability to turn into any type of cell in the body. Some research is currently focusing on whether stem cells can be turned into muscle cells and used to regenerate damaged muscle tissue.
Muscular dystrophy can affect you emotionally as well as physically. Support groups and organisations may help you understand and come to terms with your condition. They can also provide useful advice and support for people who care for those with MD. You can also ask your GP or other healthcare professional treating you about support groups in your local area.
Page last reviewed: 20 July Next review due: 20 July Mobility and breathing assistance As MD progresses, it weakens your muscles and you gradually begin to lose mobility and strength. These physical problems can be helped with: low-impact exercise , such as swimming physiotherapy , which can be useful for maintaining muscle strength, preserving flexibility and preventing stiff joints physical aids, such as a wheelchair , leg braces or crutches, which can help you stand and stay mobile occupational therapy , which can help maximise or improve your independence by using different techniques, changing your environment and providing any necessary assistive equipment Once the chest muscles become too weak to control breathing properly, you may need machines to assist with your breathing and coughing, particularly while sleeping.
Steroid medicine In people with Duchenne MD, corticosteroid medicine steroids has been shown to improve muscle strength and function for 6 months to 2 years, and slow down the process of muscle weakening. Ataluren Ataluren is a newer medicine that has been developed to treat some children with Duchenne MD aged 5 or older who can still walk.
Read the NICE guidance about the use of ataluren for treating Duchenne MD Creatine supplements Recent research has also shown that a creatine supplement can improve muscle strength in some people with MD, while causing few side effects. Treating swallowing problems People with some types of MD find swallowing increasingly difficult as the condition progresses. Treating heart complications Some types of MD can affect the heart muscles and the muscles used for breathing.
Corrective surgery In some severe cases of MD, surgery may be necessary to correct physical problems that can occur as a result of the condition.
The fact that anabolic steroids accelerate muscle growth led a Russian author to try sinestrol in 15 DMD patients, compared with 14 controls over three weeks. Six months after withdrawal of sinestrol, they found that the disease continued to progress, although less so in the treated group 24 Oxandrolone is an anabolic steroid that can promote growth with minimal toxicity. It facilitates weight gain in chronic debilitation and promotes growth in boys with constitutional delay and may increase muscle protein synthesis.
Oxandrolone was tested in DMD patients in a double-blind, six-month study, at a dose of 0. In this study, the authors thought it may be useful before starting corticosteroids 25 A randomized efficacy and safety trial of oxandrolone in the treatment of Duchenne dystrophy. Albuterol is a beta-2a adrenergic receptor agonist that, theoretically, would maintain the protein structure and indirectly act as an anabolic effect.
For comparison, muscle strength was tested manually and using several functional tests. Albuterol increases lean body mass in ambulatory boys with Duchenne or Becker muscular dystrophy. This small impact on the long-term survival of DMD patients was also responsible for there being no current use of this drug in DMD. In , Mokri and Engel described wedge-shape lesions with failure in the plasma membrane of muscle fibers in patients with DMD 27 Mokri B, Engel A.
Duchenne dystrophy: electron microscopic findings pointing to a basic or early abnormality in the plasma membrane of the muscle fiber. Neurology Dec;25 1 2 :1 1 1 This disruption of the membrane allowed the output or the ingress of material, creating abnormalities in the underlying cellular organelles and myofibrils.
One of these substances accumulated in large-dark fibers was calcium, which can activate the proteolytic enzymes leading to necrosis 28 Intracellular calcium accumulation in Duchenne dystrophy and other myopathies: a study of , muscle fibers in biopsies. Figure 2. This finding led to the investigation of calcium antagonists in DMD. Verapamil was used in DMD patients three patients on verapamil vs five on placebo using electronic ergometers as a method of evaluation.
Over time, the DMD patients increased their PR interval on an electrocardiogram and, as a precaution, the drug was discontinued 29 Verapamil in Duchenne muscular dystrophy. The effect of flunarizine on DMD patients was evaluated in a double-blind controlled study of 27 patients 13 on medication for one year.
No difference was found between the treated patients when compared with the placebo group. Some patients in the flunarizine group had a faster functional decline in their lower limbs 30 A trial of flunarizine in the treatment of Duchenne muscular dystrophy.
Nifedipine was administered in DMD patients, at a dosage of 0. No statistically significant difference was found in any of the analyzed parameters 31 Clinical investigation in Duchenne dystrophy. Double-blind controlled trial of nifedipine. In , Pernice et al. A double-blind placebo controlled trial of diltiazem in Duchenne dystrophy. Klin Wochenschr. The initial study lasted one year and no difference was found in all analyzed parameters, but the diltiazem group had a lower percentage of calcium-positive muscle fibers than the control biopsies.
The study was extended to three years with 46 patients and compared with placebo but no beneficial response was found. The muscle strength continued to decrease. In the group that used diltiazem, this reduction was smaller, but without statistical significance 33 Effect of chronic treatment with the calcium antagonist diltiazem in Duchenne muscular dystrophy.
A meta-analysis with calcium channel antagonists, covering five studies showed no benefit in DMD patients. However, this meta-analysis covered small number patients.
It was concluded that calcium-channel antagonists were of no use in DMD 34 Phillips MF, Quinlivan R. Calcium antagonists for Duchenne muscular dystrophy.
Cochrane Database Syst Rev. In the s, animal experiments using monoamines serotonin and nor-epinephrine associated with imipramine, produced histological changes similar to that seen in DMD patients. Parker et al. Proximal myopathy induced by 5-HT-imipramine simulates Duchenne dystrophy. Several researchers have turned to drugs that could intervene in muscle blood flow by increasing circulation or inhibiting substances with a possible myotoxic effect.
However, these were not statistically significant in the short term 36 Clinical trials of vasoactive and antiserotonin drugs in Duchenne muscular dystrophy.
Ann Clin Res. Associated with the plasma membrane of the muscle fiber, there is a variant of neuronal nitric oxide synthase, which acts on the formation of nitric oxide and is involved in the regulation of muscle blood flow. Nitric oxide modulates adrenergic vasoconstriction functional sympatholysis during muscle exercise to improve perfusion. Due to the dystrophin deficiency in the sarcolemma of DMD patients, this could hypothetically create disruption of the enzymatic system of the neuronal nitric oxide synthase with a consequent reduction in the blood flow.
Tadalafil was used in DMD patients, one group receiving 0. In functional tests over a week period, tadalafil did not prevent progressive decline in gait or any of the other parameters 37 A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy. Necrosis and phagocytosis induce endomysial connective tissue proliferation with muscle fibrosis and shrinkage and progressive muscle retraction Figure 3. To try to reduce fibrosis and the proliferation of connective tissue, and perhaps influence the evolution of the disease, several drugs have been used 38 A double-blind controlled trial of Penicillamine therapy in Duchenne muscular dystrophy: interim comments.
Proc R Soc Med. Clinical investigation in Duchenne muscular dystrophy: penicillamine and vitamin E. Based on experimental data from chickens, DMD patients were treated with penicillamine 15 patients vs 15 controls , but after 11 months there was no significant difference in the degree of contracture or muscle strength 38 Another study with 97 DMD patients, for whom penicillamine was combined with vitamin E, showed no difference between the treated patients and placebo 39 Pentoxifylline as a rescue treatment for DMD: a randomized double-blind clinical trial.
All patients were using corticosteroids. No significant change was found among the 30 analyzed parameters 40 The DMD patients, at some stage of the disease, have a mild-to-moderate inflammatory reaction Figure 4. The action of corticosteroids when modifying the natural history of DMD has raised hypotheses of their mechanism of action, and among them was the possible anti-inflammatory effect. In order to obtain the same anti-inflammatory effect as corticosteroids and to use smaller doses, some immunosuppressive drugs have been tested 41 Duchenne dystrophy: randomized, controlled trial of prednisone 18 months and azathioprine 12 months.
Mononuclear cell analysis of muscle biopsies in prednisone- and azathioprine-treated Duchenne muscular dystrophy. Cyclosporine increases muscular force generation in Duchenne muscular dystrophy. Neurology Mar; 43 3Pt1 In , a randomized controlled trial of prednisone was tested, in addition to azathioprine The addition of azathioprine did not show any benefit and the conclusion was that the effect of corticosteroids was not due to immunosuppression 41 Azathioprine reduced inflammatory infiltrate and cell response in muscle biopsies at the same intensity as corticosteroids, suggesting that the corticoid effect does not have its effect due to the reduction of the inflammatory reaction 42 In , at the same time as the azathioprine study, cyclosporine was tested by Sharma et al.
The force increased while the patients were using cyclosporine but the progression of weakness continued when the drug was stopped. A double-blind study was done with 77 DMD patients, who received cyclosporine at the dose of 3.
In this study, another group received concomitant prednisone 0. Cyclosporine alone or in combination with prednisone did not improve muscle strength or the functional capacity of mobility 44 Treatment of Duchenne muscular dystrophy with ciclosporin A: a randomised, double-blind, placebo-controlled multicentre trial.
Lancet Neurol. In , Drachman et al. They noticed an improvement in mobility, gait, and agility, and a creatine kinase serum reduction in 13 patients. They considered the response good in seven patients and moderate in six, over a period of three and 28 months. Prednisone in Duchenne muscular dystrophy. Even without controlled studies, the prescription of prednisone in DMD patients was diffused, corroborated by the clinical practice of apparent improvement.
In , a placebo-controlled trial of patients using prednisone 0. Randomized, double-blind six-month trial of prednisone in Duchenne's muscular dystrophy. N Engl J Med. Since then, prednisone has routinely been prescribed because the benefits are greater than the side effects. Cooperative studies with a greater number of patients confirmed that corticosteroid administration prolongs muscle function in the upper and lower limbs, maintaining the strength for longer, helping in day-to-day functions, walking for a longer time, improving quality of life and survival.
In addition, it has beneficial effects on pulmonary ventilation and cardiomyopathy 47 Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study.
The largest study on the action of corticosteroids enrolled 5, DMD patients, 2, of whom were continuously using corticosteroids Those who used corticosteroids continuously walked for a longer time three years when compared with those who did not.
The use of corticosteroids significantly reduced the number of scoliosis surgeries, delayed the use of assisted ventilation, but did not influence the incidence of myocardiopathy after 20 years. The single deletion of exon 45 treated with corticosteroids delayed the loss of gait and increased the survival time compared with the other types of deletions 1 1. Corticosteroid therapy improves muscle strength by prolonging gait time, preserves upper limb function, helps prevent scoliosis, reduces cardiomyopathy progression, and delays the need for invasive ventilation, with some patients surviving longer than 30 years.
However, chronic use of corticosteroids causes delayed growth and puberty, weight gain, skin changes, a Cushingoid appearance, behavioral disorders, adrenal suppression, reduction of bone mineralization, cataracts and metabolic changes 48 Short stature and pubertal delay in Duchenne muscular dystrophy.
Arch Dis Child. Each of these complications should be monitored and, when they arise, they should be appropriately treated. Although there are several corticosteroid drugs, only prednisone and deflazacort have trials in DMD patients that have been published.
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