Medication
In part 1 of this three-part update, we present care considerations for diagnosis of DMD and neuromuscular, rehabilitation, endocrine (growth, puberty, and adrenal insufficiency), and gastrointestinal (including nutrition and dysphagia) management.
Procedures
It is important that a health professional be available to help coordinate care for anyone with muscular dystrophy. Depending on local services, any one of a wide range of health care professionals can serve as a coordinator of clinical care. These health care professionals can include:
Therapy
A neuromuscular specialist is a professional who undergoes intensive training to master the tests that involve muscular disorders including muscular dystrophy. The neuromuscular specialist will get a muscle sample from you.
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For decades, medications called steroids have been part of the standard of care for Duchenne. While these drugs have been shown to extend muscle function, including the ability to walk, they have many unpleasant side effects. RELATED: What is Muscular Dystrophy?
What are care considerations for Duchenne muscular dystrophy (DMD)?
Who can help coordinate care for people with muscular dystrophy?
What is a neuromuscular specialist for muscular dystrophy?
Do steroids work for Duchenne muscular dystrophy?
What kind of doctor treats muscular problems?
If you have muscle pain as the result of an injury or condition, or even if you have no idea how it started, schedule an appointment with an orthopedic physician at the Center for Orthopaedic Surgery and Sports Medicine.
Is Duchenne muscular dystrophy orthopedic?
DEFINITION. Our nation's special education law, the Individuals with Disabilities Education Act (IDEA) includes Muscular Dystrophy under “orthopedic impairment,” which means... “…a severe orthopedic impairment that adversely affects a child's educational performance.
Who can diagnose muscular dystrophy?
Electromyography. If signs of muscular dystrophy appear in your or your child's blood work, a neurologist can confirm the diagnosis through a variety of tests. Electromyography (EMG) is used to evaluate muscle function.
What treatments are available for Duchenne muscular dystrophy?
Treatment of DMD may include:Medications to relieve symptoms.Physical therapy for muscle weakness.Respiratory therapy for breathing issues.Occupational therapy for swallowing difficulties.Behavioral therapy to address cognitive function.Diet and nutrition counseling for patients with difficulty chewing or swallowing.More items...
What are the treatments for orthopedic impairment?
Treatments for orthopedic impairments include surgery, braces, prosthetics, or orthopedic devices.
What are the 3 main areas of orthopedic impairments?
The IDEA category of orthopedic impairments contains a wide variety of disorders. These can be divided into three main areas: neuromotor impairments, degenerative diseases, and musculoskeletal disorders.
What kind of doctor does a muscle biopsy?
A special doctor called a pathologist will then study the skin under a microscope, looking for specific features that will help diagnose the different skin manifestations of the disease. Understanding these specific features can also help guide treatment. The biopsied area should heal within a week or two.
Who diagnoses Duchenne muscular dystrophy?
After diagnosis, the neuromuscular specialist will serve as the lead clinician, taking overall responsibility for care of the person with DMD and performing multiple roles and responsibilities across the individual's lifetime (panel 1).
How does a doctor diagnose muscular dystrophy?
A muscle biopsy (the removal and exam of a small sample of muscle tissue) DNA (genetic) testing. Electromyography or nerve conduction tests (which use electrodes to test muscle and/or nerve function) Blood enzyme tests (to look for the presence of creatine kinase, which reveals inflammation and death of muscle fibers)
What is the best treatment for muscular dystrophy?
How is muscular dystrophy managed or treated?Physical and occupational therapies strengthen and stretch muscles. ... Speech therapy helps those who have problems swallowing.Corticosteroids, such as prednisone and deflazacort, may slow disease progression.More items...•
What type of therapy is Eteplirsen?
Eteplirsen (brand name Exondys 51) is a medication to treat, but not cure, some types of Duchenne muscular dystrophy (DMD), caused by a specific mutation. Eteplirsen only targets specific mutations and can be used to treat about 14% of DMD cases. Eteplirsen is a form of antisense therapy.
Are there any new treatments available today for Duchenne muscular dystrophy?
A Band-Aid for damaged genes There is no cure for DMD, but a new class of drugs called antisense oligonucleotides uses an approach called “exon skipping,” which acts like a Band-Aid over the missing exons so the body can skip over the damaged instructions and produce the protein needed to rebuild muscle tissue.
Why do people with DMD have muscle weakness?
People who have DMD experience progressive muscle weakness because they do not have enough dystrophin (a protein) to help keep the muscles strong and healthy. Although every person is different, the muscle weakness in DMD often follows a certain path.
Why is it important to have a DBMD?
Preventing lung infections, such as pneumonia, is important for healthy breathing. It is important that people who have DBMD get vaccinations to prevent pneumonia. They also might need manual and mechanically assisted support to stimulate coughing when they have a cold or infection.
Why do people with DBMD have issues?
These issues might be caused by the condition, they might be side effects of using medications to treat health issues, or they might be a result of the emotional and mental health challenges that accompany living with muscular dystrophy.
How does DBMD affect the heart?
DBMD affects muscles in the heart. As people with the condition grow older, their heart muscles get weaker. The heart muscle becomes weak and might not pump blood into the body properly. The heart also might beat either too fast or too slow. People with DBMD should have their heart checked regularly.
What are the health problems associated with DBMD?
People with DBMD can have diet, nutrition, and digestion issues. These problems can change over time and include being underweight or overweight, and having swallowing problems, heartburn, and constipation (bowel movements which are infrequent, difficult, or both).
What happens when you get older with DBMD?
As people with DBMD grow older, the muscles that support breathing get weaker. Signs of trouble with breathing can include shortness of breath, fatigue (that is, being very tired all the time), headaches, and trouble sleeping.
Can a DBMD patient breathe at night?
People with DBMD might have trouble breathing at night and might need to use a machine to help take a deep breath. Over time, they might find it difficult to breathe during the day, and might need a machine to help them both day and night. As the condition progresses, the lungs become weaker.
What is the diagnosis of Duchenne muscular dystrophy?
Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation , endocrine, and gastrointestinal and nutritional management. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management.
How to help muscular dystrophy?
Exercise. 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.
How often should a DMD patient have a cardiac evaluation?
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 10. After that, the evaluations should be done every year or at the onset of symptoms of heart weakness, such as fluid retention or shortness of breath. 1
What is DMD treatment?
DMD treatment requires multidisciplinary care to coordinate the multiple specialized assessments and interventions needed to maximize function and quality of life for patients. The use of available treatments can help to maintain comfort and function and prolong life.
Why is it important that the surgical team know about the patient's DMD?
It is important that the surgical team know about the patient's DMD so that complications can be avoided or quickly treated. Also, patients with DMD (as well as patients diagnosed with BMD) should have preoperative evaluations by pulmonary, anesthesia, and cardiac specialists prior to any surgery. 1,2.
What is the best diet for DMD?
Most doctors recommend a diet similar to that for any growing boy but with a few modifications. However, some suggest the intake of dietary calcium and vitamin D in the form of dairy products, other foods rich in calcium, a supplementation, and sunshine exposure. Depending on the circumstances and the treatment route (such as glucocorticoids), patients are at risk of malnutrition and weight imbalance. Therefore, it is recommended patients see a nutritionist/dietician at every clinic visit. 4
What happens if you don't treat muscular dystrophy?
If not treated, these will become severe, causing discomfort and restricting mobility and flexibility.
What kind of doctor is best for muscular dystrophy?
An osteopath can also serve as a counselor for people with muscular dystrophy, particularly children. An osteopath is, more or less, the best specialist to tap to help the patient cope with the condition both physically and mentally. This is because they are very hands-on to the treatment of the disease and encourage physical therapy first before resorting to surgery and medication.
What is the name of the doctor who treats spinal muscular atrophy?
Orthopedic Surgeons: However, when the disease has already affected the spine and causes spinal muscular atrophy, a genetic disorder that affects the control of the muscles, then an orthopedic surgeon must be called.
What does EMG mean in DMD?
When the DMD patient undergoes the EMG test, it means that the electrical activity of the muscles is being tested. If the patient is healthy, the muscle must give off a normal size, shape, and sound of the electrical signals. The patient with muscular dystrophy will make a different kind of electrical signal.
What is the procedure for muscular dystrophy?
Cardiothoracic Surgeon Doctors: When the muscular dystrophy is already serious and affects the heart, then a heart transplant surgery might take place. During the heart transplant, a left ventricular assist device or LVAD, a mechanical device, will be implanted inside the patient’s chest to regulate the pumping of blood in the body.
What is a clinical molecular geneticist?
In most cases, a clinical molecular geneticist is a qualified geneticist who can interpret molecular diagnosis relevant to human genetic disorders and abnormalities.
What is an orthopedic surgeon?
The orthopedic surgeon usually specializes with spine problems and the extremities, but also deals with people who suffer from trauma and arthritis -- some of the related complications dealt by individuals with muscular disorders.
What is the first doctor you see?
Family Doctor: The very first doctor that you need to see is, of course, your family doctor. A family doctor knows the health history of your family including your own health history. Therefore, it is only reasonable to start your consultation with him or her.
How many babies are affected by Duchenne muscular dystrophy?
Duchenne muscular dystrophy mostly affects boys and occurs in one in 3,500 to 5,000 newborns. There is no higher risk for any ethnic group. Children affected by DMD may have some degree of cognitive problems, yet some have average or even higher-than-average intelligence.
What is the most severe muscular dystrophy?
Duchenne muscular dystrophy, or DMD, is associated with the most severe clinical symptoms of all the muscular dystrophies. It is caused by a genetic mutation on one of the mother’s X chromosomes, and researchers have identified some of the affected genes.
What is the cause of DMD?
DMD is a genetic disease caused by a gene on the X chromosome that mothers can pass on to their sons. The gene affects a protein called dystrophin that muscles require to function normally.
What is the best treatment for DMD?
The first line of treatment is corticosteroids, which have been shown in clinical trials to decrease the rate of declining strength in people with DMD.
How old is too old to have DMD?
DMD most commonly appears in children between 3 and 6 years old. Children may have difficulty walking or getting up from a seated position or from lying down. Parents or caretakers may notice weakness of the shoulder and pelvis, abnormal clumsiness and frequent falling. Other symptoms and signs include:
What causes muscle weakness?
Muscle weakness may affect the skeletal muscle or the heart muscle. It is caused by the inability of muscles to respond to nerve impulses from the brain.
What is the best treatment for Duchenne muscular dystrophy?
Steroid therapy is a standard treatment for Duchenne, while other treatments will depend on your specific symptoms and condition. Steroids are a mainstay of treatment for Duchenne muscular dystrophy. Eldad Carin/Stocksy. Duchenne muscular dystrophy is a genetic, progressive condition that causes loss of muscle function over time.
What is the treatment for Duchenne?
Corticosteroids, referred to as steroids for short, are the main drug treatment for Duchenne. Among doctors who treat the condition, “we all agree that steroids are the cornerstone of Duchenne management,” says Vamshi K. Rao, MD, a pediatric neurologist and the codirector of the Muscular Dystrophy Association Clinic at Lurie Children’s Hospital in Chicago.
What is Duchenne treatment?
Treating Duchenne means tackling all the problems that can arise from the condition, from muscle tightness to cardiovascular and breathing problems. Ideally, a multidisciplinary healthcare team will take many different approaches to ensure that all of your needs and concerns are addressed.
Why is Duchenne a pulmonary condition?
The aim of pulmonary care for the condition is to make breathing easier and make sure your body is getting the oxygen it needs.
Does Duchenne slow down walking?
That’s because so far, steroids are the only treatment that has been shown to slow the course of Duchenne across the board. Steroid treatment has been shown to increase muscle strength, delay loss of walking ability by as much as two to three years, reduce the risk of scoliosis (sideways spinal curvature), and improve pulmonary (breathing) ...
Can Duchenne be reversed?
It’s mostly seen in boys and men but can occur, often in a milder form, in girls, and is present at birth. While many new treatments are on the horizon, current treatment options for Duchenne may slow the progression of the disease and treat its symptoms, but cannot halt or reverse its course. For decades, medications called steroids have been part ...
Can steroids cause Duchenne muscular dystrophy?
Medically Reviewed. Steroids are a mainstay of treatment for Duchenne muscular dystrophy. Eldad Carin/Stocksy. Duchenne muscular dystrophy is a genetic, progressive condition that causes loss of muscle function over time. It’s mostly seen in boys and men but can occur, often in a milder form, in girls, and is present at birth.
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