The following information may help to address your question:
What symptoms are associated with Duchenne muscular dystrophy?
Symptoms of Duchenne muscular dystrophy (DMD) are usually noticed in boys between 1 to 6 years of age. There is a steady decline in muscle strength between the ages of 6 and 11 years. By age 10, braces may be required for walking, and by age 13, most boys with DMD are confined to a wheelchair. The signs and symptoms are as follows:
- Taking longer to learn to sit, stand, or walk on own, which is known as delayed motor development. The mean age for walking in boys with DMD is 18 months.
- Having a waddling walk or gait, difficulty climbing stairs, and running due to progressive muscle weakness of the leg and pelvic muscles and progressive loss of muscle mass (wasting or atrophy).
- Difficulty getting up from the floor. Child may walk his hands up his legs to stand which is known as the Gower maneuver.
- Enlargement of calf muscles due to the calf muscle cells being replaced by fat and connective tissue (pseudohypertrophy).This may also cause calf pain.
- Muscle weakness first affecting the muscles of the hips, pelvic area, thighs and shoulders, and later the skeletal (voluntary) muscles in the arms, legs and trunk.
- Tight or rigid joints (also known as contractures) may develop as muscle loss progresses. If not treated, these will become severe, causing discomfort and restricting mobility and flexibility. Contractures can affect the knees, hips, feet, elbows, wrists and fingers.
- Scoliosis may develop within several years of being confined to a wheelchair.
- By the early teens, the respiratory and heart muscles are also affected.
- Breathing problems due to weakness of the diaphragm and the other muscles supporting the operation of the lungs. Skeletal changes, such as scoliosis, may also increase breathing problems. Breathing problems may become life threatening.
- Progressive enlargement of the heart (cardiomyopathy) develops. This stops the heart from pumping blood efficiently, and becomes life-threatening in many cases.
- Learning and memory issues (cognitive impairment) may occur in some cases, but do not worsen as the DMD progresses.
- Communication may be more difficult for some.
- Social behavior may be affected, as well as the ability to read facial cues.
Last updated: 9/28/2017
What causes Duchenne muscular dystrophy?
Duchenne muscular dystrophy (DMD) is caused by mutations
in the DMD gene
. The DMD
gene provides instructions for making a protein
. Dystophin is primarily made in the muscle cells of the heart and skeletal muscle. The main job of dystrophin in muscle cells is to help stabilize and protect muscle fibers.
Small amounts of dystrophin are also made in nerve cells (neurons) in specific parts of the brain, including the hippocampus. The hippocampus is the part of the brain involved in learning and memory, as well as emotions. Scientists do not yet understand the job of dystrophin in neurons.
DMD is caused by genetic changes in the DMD
gene that stop any functional dystrophin from being made.
When dystrophin is missing, the muscle cells become damaged more easily. In response to the damage, inflammation occurs, which only worsens the process. Over time, the muscle cells without dystrophin weaken and die, leading to the muscle weakness and heart problems seen in DMD.
The non-progressive memory and learning problems, as well as social behavioral problems, in some boys with DMD are most likely linked to loss of dystrophin in the neurons of the hippocampus and other parts of the brain where dystrophin is normally produced in small amounts, but at this point it is not known why this occurs and why only some people with DMD have these problems.
Different genetic changes in the DMD gene can cause a spectrum of disorders known as dystrophinopathies
. The dystrophinopathies can range from very mild symptoms to the more severe symptoms seen in people with DMD. Other dystrophinopathies include Becker muscular dystrophy
(BMD) and DMD-associated dilated cardiomyopathy
Last updated: 9/28/2017
How is Duchenne muscular dystrophy inherited?
Genetic changes causing Duchenne muscular dystrophy (DMD) can be passed down in families. The DMD gene is located on the X chromosome
, one of the two types of sex chromosomes
. Males have an X and a Y chromosome
; whereas females have two X chromosomes
. Since males only have one X chromosome, they also only have one copy of the DMD
gene. If this copy has a genetic change that causes DMD, the male will have DMD. Males get their X chromosome from their mother and the Y chromosome from their father.
Since females have two X chromosomes, they have two copies of the DMD
gene. Having two changed copies of the DMD
gene that can cause DMD is unlikely, but would cause DMD in females. A female with only one changed copy of the DMD
gene is called a "carrier
". She can pass on the changed gene, but usually does not have symptoms of DMD. Carriers of changes in the DMD gene that can cause DMD are at an increased risk of developing heart problems, including cardiomyopathy. In addition, due to a process called X-inactivation
, in rare cases, female carriers may have mild, moderate, or severe DMD.
If a man with DMD has children, all of his daughters will be carriers. Since boys inherit the Y chromosome from their father, sons will not inherit DMD from their fathers, even if the father has DMD.
Women who are carriers of a change in the DMD gene that can cause DMD have a 50% chance of passing it on to each child, whether the child is a boy or a girl. In other words, each daughter will have a 50% risk of being a carrier. Each son will have a 50% risk of having DMD.
In some cases, a child is the first person in his family to be diagnosed with DMD. This can happen if the change in the DMD gene happened by mistake during the making of the egg or sperm. When this happens it is called a new or de novo mutation. In this case, the risk that the mother would have another child with DMD is low. However, sometimes, the boy's mother is a carrier of DMD, but is the first person in her family with the change in the DMD gene. This means the change in the DMD gene happened by mistake during the making of the egg or the sperm that came together to form the fertilized egg that developed into her. In this case, the mother is a carrier and would have a 50% risk that each son will have DMD and also a 50% risk that each daughter will be a carrier. To complicate the inheritance even more, a woman may not have the change in the DMD gene in all of her cells. She may only have the change in the gene in some of the cells of her body, including her eggs, or even just in some of her eggs. This can happen if the mistake happens after the egg is fertilized, but sometime early in development of the fetus. In these cases the risk of passing the changed gene to her children depends on how many of her eggs are affected.
Since the inheritance of DMD can be complicated, a family with a newly diagnosed child with DMD should speak with a genetic counselor or other genetic specialist to understand if there is a risk of having more children with DMD and to understand the available genetic testing options.
Last updated: 9/28/2017
How might Duchenne muscular dystrophy be treated?
There is no known cure for Duchenne muscular dystrophy (DMD) but research is ongoing. The goal of treatment is to control the symptoms of DMD and related complications caused by severe progressive muscle weakness and loss in order to maximize the quality of life. An enlarged, weakened heart (dilated cardiomyopathy) may be treated with medications, but in severe cases a heart transplant
may be necessary. Assistive devices for breathing difficulties may be needed, especially at night and as the disease progresses.
Gentle exercise is encouraged for people with DMD. Physical inactivity (such as bed rest) can worsen the muscle disease, but so can overexertion. Physical therapy may be helpful to maintain muscle strength and function. Orthopedic devices (such as braces and wheelchairs) may improve the ability to move and take care of oneself.
) may improve the strength and function of muscles in people with DMD, including lung function. Steroid options include:
- Prednisone is a steroid that has been shown to extend the ability to walk by 2 to 5 years. However, the possible side effects of prednisone include weight gain, high blood pressure, behavior changes, and delayed growth.
- Deflazacort (another form of prednisone), is used in Europe and believed to have fewer side effects and was recently approved in the United States by the FDA.
- Oxandrolone, a medication used in a research study, also has similar benefits to prednisone, but with fewer side effects.
The U.S. Food and Drug Administration of United States approved Exondys 51 (eteplirsen) injection to treat people with DMD who have a change in the DMD gene that will allow a shortened form of dystrophin to be made if exon 51 is skipped. An exon is the part of the gene that actually codes for the protein. The DMD gene has 79 exons. About 13% of those with DMD may be helped by Exondys 51.
Because chronic use of corticosteroids can lead to side effects, and rapid withdrawal of corticosteroids can result in life-threatening complications, there are recommended guidelines on how to proceed with withdrawal. The PJ Nicholoff Protocol guides withdrawal from corticosteroids following long term treatment.
The Muscular Dystrophy Association (MDA) has current information about the medical management of DMD.
Last updated: 9/28/2017
Is there any research being done for other potential treatments?
Currently, there are multiple clinical trials
that are testing the safety and effectiveness of various treatments for Duchenne muscular dystrophy. These treatments are currently being studied and are not yet available for use outside of a research setting.
Exon skipping drugs are currently being researched as a treatment option for DMD. This treatment is designed to get the muscle cells of individuals with Duchenne muscular dystrophy to produce the missing protein, called dystrophin. Many different pharmaceutical companies (GlaxoSmithKline, PTC Therapeutics, and AVIBioPharma) are working on developing different versions of this treatment. The different names that have been used for these drugs are PRO051 (GSK2402968), PTC124 (ataluren), and eteplirsen. The type of mutation
an individual has will determine if an individual is eligible for this exon skipping treatment. This type of treatment is expected to be approved in 2014.
Another type of treatment is Coenzyme Q10, which is an antioxidant
that can be used in addition to prednisone
(a steroid) to help improve the symptoms of DMD. Multiple studies have shown an increase in muscle strength when using this treatment.
Also, a small study was done to look at the effectiveness of the use of idebenone therapy in children. This treatment was safe and well tolerated and seemed to help improve the symptoms of DMD.
There is also another treatment that will soon be studied in clinical trials. This treatment combines three medicines, sildenafil
, and ibuprofen
. This combination of medicines was found to reduce the severity of DMD in mice.
Two other treatment options for DMD have been studied but neither of these has improved symptoms. One treatment is called pentoxifylline
, which helps improve circulation of blood in the body. The other treatment is with glutamine, which is an amino acid
essential for muscle strength. Further research may be done to find out ways to make these treatments effective.
Last updated: 11/4/2013
Where can I learn more about current research into treatments for Duchenne muscular dystrophy?
lists trials that are studying or have studied Duchenne muscular dystrophy. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
The DuchenneConnect Profile
provides a patient registry for individuals with Duchenne muscular dystrophy. This resource gives people access to information about new treatments and trials, services like genetic testing and counseling, and regional and local resources for patients and their families.
In addition, the Muscular Dystrophy Association (MDA) MDA offers quality medical care from doctors, nurses and therapists experienced in dealing with neuromuscular diseases
at 225 hospital-affiliated clinics. These clinics also serve as sites for clinical trials of the latest experimental therapies and drugs. You can contact the MDA directly for more information.
Muscular Dystrophy Association (MDA) - USA
3300 E. Sunrise Drive
Tucson, AZ 85718
Web site: http://www.mdausa.org
Last updated: 11/4/2013
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