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. As the muscles that assist in breathing get weaker, the bronchial system must be kept free of secretions, either by using a cough assist device or by manual assisted coughing with the help of a caregiver.
A respiratory therapist or pulmonologist can be consulted for the needed information. At some point, assisted ventilation may be needed to help provide sufficient air flow into and out of the lungs.
The first step in using assisted ventilation is usually a noninvasive device , meaning one that does not require any surgical procedures. The person receives air under pressure through a mask, nosepiece, or mouthpiece. Noninvasive ventilation usually is required only part time, often only during sleep. If round-the-clock ventilatory support becomes necessary, it is possible to use noninvasive ventilation full time, under the care of a doctor knowledgeable in this practice.
Some young men choose to switch to an invasive system, which means that a surgical opening called a tracheostomy is performed, allowing air to be delivered directly into the trachea windpipe.
In young men with DMD, the spine can be gradually pulled into a curved shape. Scoliosis usually appears after a boy has started using a wheelchair full time. Severe scoliosis can interfere with sitting, sleeping, and even breathing, so measures should be taken to try to prevent it. Exercises to keep the back as straight as possible and advice about sitting and sleeping positions can be obtained from a physical therapist.
Spine-straightening surgery involves inserting metal rods with hooks into the spine. These include:. MDA contributed to the development of the comprehensive guide. Guidelines for care of people with DMD receiving anesthesia or sedation were released by the American College of Chest Physicians in Skip to main content. Search MDA. Search Donate. Medical Management Thanks to advances in many areas of medicine, such as cardiology and pulmonology, people with Duchenne muscular dystrophy DMD in the 21st century are living longer than in previous decades, often well into adulthood.
Anesthesia People with DMD may have unexpected adverse reactions to certain types of anesthesia. Also see: Putting Your Best Foot Forward Stand Up and Go with Mobile Standers and Standing Wheelchairs Cardiac care The American Academy of Pediatrics recommends that people with DMD have a complete cardiac evaluation including an electrocardiogram and noninvasive imaging by a specialist beginning in early childhood and again at least every other year until age Diet and nutrition No special dietary restrictions or additions are known to help in DMD.
Inactivity such as bedrest can make the muscle disease worse. Physical therapy may help to maintain muscle strength and function. Speech therapy is often needed. You can ease the stress of illness by joining a support group where members share common experiences and problems. The Muscular Dystrophy Association is an excellent source of information on this disease. Duchenne muscular dystrophy leads to progressively worsening disability.
Death often occurs by age 25, typically from lung disorders. However, advances in supportive care have resulted in many men living longer. People with a family history of the disease may want to seek genetic counseling. Genetic studies done during pregnancy are very accurate in detecting Duchenne muscular dystrophy.
Bharucha-Goebel DX. Muscular dystrophies. Nelson Textbook of Pediatrics. Philadelphia, PA: Elsevier; chap Muscular Dystrophy Association website. Accessed October 27, Selcen D. Data points to improved motor function and fewer side effects than other steroids.
DMD is a genetic disorder that weakens and damages the muscles in the body over time. Almost always affecting boys, DMD typically begins with muscle loss around the age of four and progresses rapidly. By 12 years of age, most children with DMD are no longer able to walk. As the disease also attacks the heart and lung muscles, patients also experience heart and respiratory complications, with most patients dying by 30 years of age. A clinical trial conducted with support from the EU-funded VISION DMD project is now testing the efficacy, safety and tolerability of an innovative steroid-like drug called vamorolone as an alternative to current corticosteroids.
However, long-term use of steroids is associated with significant side effects such as weight gain and excessive hair growth. Ataluren is a newer medicine that has been developed to treat some children with Duchenne MD aged 5 or older who can still walk.
Ataluren comes as granules provided in sachets. The contents of each sachet are mixed into liquids or semi-solid food such as yoghurt and then swallowed. Recent research has also shown that a creatine supplement can improve muscle strength in some people with MD, while causing few side effects. Creatine is a substance normally found in the body that helps supply energy to muscle and nerve cells.
It's often available as a supplement from pharmacies and health food stores. If you have MD and decide to take creatine supplements, make sure you mention this to your doctors GP and specialist.
People with some types of MD find swallowing increasingly difficult as the condition progresses. This is known as dysphagia and it can increase your risk of choking or developing a chest infection , if food and liquid get into the lungs. Depending on the severity of your swallowing problems, there are a number of treatments that can be used. For example, it may help to change the consistency of your food, or teach you exercises to improve your swallowing.
If necessary, surgery can also be used to treat swallowing problems. This may involve a minor procedure to cut one of the muscles in your throat, or a small balloon may be inflated in your gullet oesophagus to expand it. If MD progresses to a point where you're unable to get enough nutrition by swallowing, a feeding tube gastrostomy or PEG may need to be surgically implanted into your stomach through your abdomen tummy.
Some types of MD can affect the heart muscles and the muscles used for breathing. When the condition has progressed to this stage, it can become life-threatening.
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