Question: Duchenne Muscular Dystrophy. I am doing a research project on this genetic disease and I would like to know more about it from a professional.  I am researching the mode of inheritance, symptoms, treatments/ support groups, and relative cost to family.

Reference:
Duchenne muscular dystrophy: Duchenne muscular dystrophy (DMD) is a progressive form of muscular dystrophy that occurs primarily in males, though in rare cases may affect females. DMD causes progressive weakness and loss (atrophy) of skeletal and heart muscles. [1] Early signs of DMD may include delayed ability to sit, stand, or walk and difficulties learning to speak. Muscle weakness is usually noticeable by 3 or 4 years of age and begins in the hips, pelvic area, upper legs, and shoulders. The calves may be enlarged. Children with DMD may have an unusual walk and difficulty running, climbing stairs, and getting up from the floor. [2] DMD may also affect learning and memory, as well as communication and certain social emotional skills. [3] Muscle weakness worsens with age and progresses to the arms, legs and trunk. Most children with DMD use a wheelchair full time by age 13. Heart and respiratory muscle problems begin in the teen years and lead to serious, life threatening complications. [2] DMD is caused by changes ( mutations ) in the DMD gene . The DMD gene codes for the protein dystrophin. [1] [2] Dystrophin is mainly made in skeletal and heart muscle cells , but a small amount is also made in nerve cells (neurons) in specific parts of the brain. [3] DMD is  inherited in an X-linked recessive  pattern; however, it may also occur in people who do not have a family history of DMD. [2]  While there is no known cure for DMD, there are treatments that can help control symptoms. [4] Due to the advancement of medical treatment, boys with DMD may now live into young adulthood. [2] [3] Becker muscular dystrophy (BMD) is also caused by mutations in the DMD gene. People with BMD have less severe symptoms than DMD. In addition, symptoms start later in childhood or in adolescence and progress more slowly. [1] 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: [1] [2] [3] 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  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.   The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below. Signs and Symptoms Approximate number of patients (when available) Calf muscle hypertrophy Very frequent Cardiomyopathy Very frequent Cognitive impairment Very frequent Delayed speech and language development Very frequent Elevated serum creatine phosphokinase Very frequent Flexion contracture Very frequent Motor delay Very frequent Progressive muscle weakness Very frequent Proximal muscle weakness Very frequent Respiratory insufficiency Very frequent Scoliosis Very frequent Skeletal muscle atrophy Very frequent Specific learning disability Very frequent Waddling gait Very frequent Calf muscle pseudohypertrophy - Childhood onset - Congestive heart failure - Dilated cardiomyopathy - Generalized hypotonia - Gowers sign - Hyperlordosis - Hyporeflexia - Hypoventilation - Intellectual disability , mild - Muscular dystrophy - Respiratory failure - X-linked recessive inheritance - View complete list of signs and symptoms... Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene . The DMD gene provides instructions for making a protein called dystrophin. 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. [1] [2] [3]  DMD is caused by genetic changes in the DMD gene that stop any functional dystrophin from being made. [2] 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. [2] [3] 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. [3]  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 (DCM). [2] 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. [1] [2]  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. [2] 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. [1] [2] DMD DMD DMD DMD A child's doctor may suspect Duchenne muscular dystrophy (DMD) in young boys who have the signs and symptoms of DMD, including progressive muscle weakness. Family history is also important. Blood tests can be used to check for  increased levels of certain special proteins called muscle enzymes in the blood which can leak from damaged muscles. Most commonly, the blood level of the enzyme creatine phosphokinase (CPK or CK) is checked, but a doctor may also check the blood levels of transaminases such as aspartate transaminase and alanine transaminase. Finding a change in the DMD gene that can cause DMD through genetic testing confirms the diagnosis of DMD. [2] [5]   Testing for DMD may include: [2] [5]  Blood test which measures the levels of serum creatine phosphokinase Molecular genetic testing Electromyography Muscle biopsy is rarely used to diagnose DMD due to the decreased cost and higher accuracy of genetic testing. Testing Resources The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. 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. [2] [6] Physical therapy Steroids ( corticosteroids ) may improve the strength and function of muscles in people with DMD, including lung function. Steroid options include: [2] [6] 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. Management Guidelines Section on Cardiology and Cardiac Surgery. Cardiovascular health supervision for individuals affected by Duchenne or Becker Muscular Dystrophy. Pediatrics 2006; 116: 1569-1573. GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Orphanet Emergency Guidelines is an article which is expert-authored and peer-reviewed that is intended to guide health care professionals in emergency situations involving this condition.   Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety. FDA-Approved Treatments The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products. National Library of Medicine Drug Information Portal National Library of Medicine Drug Information Portal Medline Plus Health Information The following diseases are related to Duchenne muscular dystrophy. If you have a question about any of these diseases, you can contact GARD. Muscular dystrophy

Answer: Duchenne muscular dystrophy (DMD) is a progressive form of muscular dystrophy that occurs primarily in males, though in rare cases may affect females. Early signs of DMD may include delayed ability to sit, stand, or walk and difficulties learning to speak. Muscle weakness is usually noticeable by 3 or 4 years of age and begins in the hips, pelvic area, upper legs, and shoulders. DMD may also affect learning and memory, as well as communication and certain social emotional skills.  Muscle weakness worsens with age and progresses to the arms, legs and trunk. Most children with DMD use a wheelchair full time by age 13. Heart and respiratory muscle problems begin in the teen years and lead to serious, life threatening complications. DMD is caused by mutations in the DMD gene, which are inherited in an X-linked recessive  pattern. DMD may also occur in people who do not have a family history of the disease. While there is no known cure for DMD, there are treatments that can help control symptoms. and complications caused by severe progressive muscle weakness. An enlarged, weakened heart 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. Steroids may improve the strength and function of muscles in people with DMD, including lung function.   Due to the advancement of medical treatment, boys with DMD may now live into young adulthood.