Cardiomyopathy in patients with DMD may be associated with conduction abnormalities as well. A doctor may observe characteristic changes in an electrocardiogram. Also, structural changes in the heart, as valvular heart disease specially affecting the mitral valve when it occurs can be detected by echocardiography. Therefore, electrocardiogram, noninvasive imaging with echocardiography, or cardiac MRI are essential, along with consultation with a cardiologist.
Early in the diagnostic process, doctors often order a blood test called a CK level. CK stands for creatine kinase , an enzyme that leaks out of damaged muscle.
When elevated CK levels are found in a blood sample, it usually means muscle is being disintegrated by some abnormal process, such as a muscular dystrophy or inflammation. A very high CK level suggests that the muscles themselves and not the nerves that control them are the likely cause of the weakness, although it does not indicate exactly what type of muscle disorder might be occurring. Genetic testing involves analyzing the DNA of any cells usually blood cells are used to see whether there is a mutation in the dystrophin gene, and if so, exactly where it occurs.
Your MDA Care Center physician or genetic counselor can give you more information on testing options. And, for more on getting a definitive genetic diagnosis, see The Genie's Out of the Bottle: Genetic testing in the 21st century. Usually genetic diagnosis is indicated for patients with elevated serum CK levels and clinical findings of dystrophinopathy. Diagnosis is confirmed if a mutation of the DMD gene is identified. Women who are DMD carriers can pass on the disease to their sons and their carrier status to their daughters.
In a minority of cases, girls and women who are DMD carriers may themselves show symptoms of DMD, such as muscle weakness and heart problems. Several experimental drugs currently in development to treat DMD require knowledge of a person's precise genetic mutation, so genetic testing has become important not only for diagnosis but possibly for future treatments.
Teerin Liewluck, M. Margherita Milone, M. Margaret A. Moutvic, M. Elie Naddaf, M. David L. Nash, M. Duygu Selcen, M. Carmen M. Terzic, M. Jennifer A. Like nurses and nurse practitioners, psychologists tend to see the person and the family in the framework of maximizing strengths and minimizing weaknesses, rather than focusing on the diagnosis and treatment of mental disorders.
Muscles that move the limbs and trunk, and the nerves that control these muscles, are obviously affected in neuromuscular disorders. Muscles and nerves that control breathing also may be affected. Pulmonologists are physicians who specialize in disorders of the lungs and structures associated with the lungs, such as the muscles that control breathing. These physicians are valuable members of the health care team for anyone with a neuromuscular disorder.
They generally work closely with respiratory therapists. Cardiac and respiratory problems are often "silent" and can sometimes go undetected until they're very far advanced. In many neuromuscular disorders, it's a good idea to have baseline evaluations of cardiac and pulmonary functioning at the time of diagnosis and to have frequent checkups thereafter.
Respiratory therapists can help develop an approach to supplementing the functions of weakening respiratory muscles with monitoring and testing, devices that augment the efforts to cough and clear secretions from the respiratory tract, and devices to increase ventilation the movement of air into and out of the lungs.
You may be introduced to social workers at many points in your health care journey. You're most likely to meet medical social workers and clinical social workers. Both are highly trained professionals, usually with master's degrees in their fields. Medical social workers found in hospitals and clinics generally focus on the practical aspects of coping with illness and disability, such as insurance reimbursement issues and other financial problems, equipment and housing needs, transportation and home care.
They're also trained in counseling techniques. Clinical social workers function more specifically as counselors, dealing, for example, with the psychosocial issues raised by disability. There is, of course, considerable overlap in the functions of these two kinds of social workers. In the modern health care facility, social workers generally cover a specific section of the hospital, such as outpatient clinics, inpatient areas and home care. Some neuromuscular disorders have a direct impact on speech because they weaken the muscles involved in speaking, and many such disorders affect swallowing.
Speech-language pathologists are the professionals who attend to muscle weakness that affects speech and swallowing. New imaging techniques have made diagnosis of mouth and throat weakness much more effective, and these professionals can perform tests to evaluate your degree of weakness.
Electronic devices can help with speaking, and various techniques, including changes in diet, can help with swallowing. This specialty therapist plays an important role in the care of neuromuscular disease. Find a Care Center Near You. Skip to main content. Search MDA. Search Donate. Innovations in Care. We provide programs and services that transform the lives of people affected by neuromuscular disease. Below are a few specialists you may encounter within your MDA Care Center team: MDA staff MDA care and clinical services staff are available to provide support and information, as well as, connect you to community resources that offer additional assistance.
Cardiologists Many forms of muscular dystrophy and some related neuromuscular disorders have significant effects on the heart — an involuntary muscle controlled by nerves. Dietitians and nutritionists Nutritional problems can occur in neuromuscular disorders, particularly if swallowing becomes difficult. Genetic counselors Many neuromuscular disorders are genetic which means a condition caused by a change or mutation in a specific gene , so another professional who may help you and your family is the genetic counselor.
Neurologists Most MDA Care Centers are directed by neurologists, physicians who specialize in the nervous system and the muscles. Nurses There are different kinds of nurses who will be critical members of your health care team.
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