Problems in the muscle-controlling nerves or in motor neurons (which originate in the spinal cord and brain and reach out to all the body’s muscles) can cause weakness that looks like a muscle problem. Methods: We examined abstracted medical records for 540 males from population-based surveillance sites in Arizona, Colorado, Georgia, Iowa, and western New York. Duchenne and Becker muscular dystrophies (DMD/BMD) are the most common inherited neuromuscular disease. Terms of Use | State Fundraising Notices. Becker dystrophy has later onset and causes milder symptoms. The incidence (rate of occurrence of new cases) of BMD has been estimated to be between 1 in 18,000 and 1 in 30,000 live male births. If a blood test is done, high levels of a protein called creatine kinase (CK) are seen. Muscular dystrophy is a group of diseases that cause progressive weakness and loss of muscle mass. Becker Muscular Dystrophy (BMD) What is Becker muscular dystrophy? Genetic testing. You can ask your MDA Care Center physician or genetic counselor what tests are available. Background: Becker-Kiener muscular dystrophy (BMD) represents an X-linked genetic disease associated with myocardial involvement potentially resulting in dilated cardiomyopathy (DCM). The pattern of muscle loss in BMD usually begins with the hips and pelvic area, the thighs, and the shoulders. Muscular dystrophy can be divided into many types. Therefore, a high CK level suggests that the muscles themselves are the likely cause of the weakness, but it does not tell exactly what the muscle disorder might be. Some registries collect contact information while others collect more detailed medical information. The symptoms can appear in early childhood, as early as age 5, or as late as age 60. See MDA updates on COVID-19, The diagnosis of Becker muscular dystrophy (BMD) may vary greatly. CK stands for creatine kinase, an enzyme that leaks out of damaged muscle. A level of 0% to 5% of dystrophin indicates DMD.2, Muscular Dystrophy Association National Office, 800-572-1717 | ResourceCenter@mdausa.org. expand submenu for Find Diseases By Category, expand submenu for Patients, Families and Friends, expand submenu for Healthcare Professionals. Some types of muscular dystrophy are defined by a specific feature or by where in the body symptoms begin. The symptoms of Becker muscular dystrophy (BMD) may begin anywhere from childhood to a person's early 20s. 2021, Muscular Dystrophy Association Inc. All rights reserved. This includes age of first sitting, standing, and walking. Becker and Kiener initially described Becker muscular dystrophy (BMD) in 1955. Becker muscular dystrophy has symptoms similar to those of DMD, but … As in diagnosing any other form of muscular dystrophy, a physician usually begins by taking a patient’s and their family’s history, followed by an extensive physical examination. It does not provide medical advice, diagnosis or treatment. MD is progressive, meaning it worsens over time. Some men need a wheelchair, while others may only need walking aids such as canes or braces. Males will develop symptoms if they inherit the defective gene. For Duchenne and Becker muscular dystrophies, protein and DNA tests can identify carriers, and DNA probes can provide prenatal diagnosis. We want to hear from you. In many cases, the DNA test alone can tell families and doctors with a high degree of certainty whether the disease course is more likely to be BMD or DMD. Muscular dystrophies are a group of genetic conditions characterized by progressive muscle weakness and wasting (atrophy). Explore symptoms, inheritance, genetics of this condition. We want to hear from you. The lifespan is often shorted due to heart disease and respiratory complications. In muscular dystrophy, abnormal genes (mutations) interfere with the production of proteins needed to form healthy muscle.There are many different kinds of muscular dystrophy. If you do not want your question posted, please let us know. Becker muscular dystrophy. Limb-Girdle Muscular Dystrophy. Becker MD also progresses … Becker muscular dystrophy tends to appear later than the most common form of the disease, Duchenne MD (DMD). The other third of cases probably result from new mutations in the gene. Proximal muscle weakness is reported 5. rare disease research! Desguerre I, Mayer M, Leturcq F, et al. The disorders differ in which muscles are primarily affected, the degree of weakness, how fast they worsen, and when symptoms begin. Histopathological changes in Duchenne muscular dystrophy. If you have problems viewing PDF files, download the latest version of Adobe Reader, For language access assistance, contact the NCATS Public Information Officer, Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311. The symptoms include: trouble walking loss of reflexes difficulty standing up poor posture bone thinning scoliosis, which is an abnormal curvature of your spine mild intellectual impairment … Genetic. A genetic disease is one that you … Muscular dystrophy, or MD, is a group of degenerative diseases that causes weakness and loss of function in the muscles that control movement, and sometimes muscles of the heart and respiratory system. A physical exam indicates lack of pectoral and upper arm muscles, … Both the Duchenne and Becker forms of muscular dystrophy are associated with a heart condition called cardiomyopathy. Muscular Dystrophy (MD) is diagnosed by physical exam, family medical history, and tests such as biopsy, blood work, DNA testing and EMG. To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. All those types affect your muscles, but may produce different symptoms, depending on the areas affected by the condition. This table lists symptoms that people with this disease may have. Hoffman EP, Kunkel LM, Angelini C, et al. Like Duchenne MD, Becker MD mostly affects boys. Becker muscular dystrophy (BMD) generally leads to slowly worsening disability, but the amount of disability can vary among affected people. Do you have updated information on this disease? Signs and Symptoms. Other symptoms may include: Muscle weakness that starts in the pelvis, shoulders, … Bell CD, Conen PE. Becker muscular dystrophy occurs in about 3 to 6 out of every 100,000 births. A muscle biopsy or genetic testing confirms the diagnosis of Becker muscular dystrophy. Overall, there are two approaches for genetic testing. all the symptoms listed. Percent of people who have these symptoms is not available through HPO, Abnormally developed bones, leading to deformities of the chest and back (, Muscle wasting that begins in the legs and pelvis, then progresses to the muscles of the shoulders, neck, arms, and respiratory system. Bell, C. D. & Conen, P. E. Histopathological changes in Duchenne muscular dystrophy. Becker muscular dystrophy (BMD) is a genetic condition that leads to progressive muscle wasting. A doctor wants to determine whether a patient’s weakness results from a problem in the muscles themselves or in the nerves that control them. The diagnosis of Becker muscular dystrophy is based on physical symptoms, family history, an elevated concentration of creatine kinase (CK) in the blood indicating destruction of muscle, and molecular genetic testing. There is currently no cure for Becker muscular dystrophy (BMD), and management aims to help with symptoms and improve the quality of life. Muscle biopsies show fibrosis and fat tissue instead of muscle tissue, as well as signs of degeneration, regeneration, and muscle fiber hypertrophy (enlargement of the muscle fibers).3,4,5 Special staining in the muscle biopsy and dyes using antibodies for the detection of dystrophin may be used in case of a negative genetic testing. They can direct you to research, resources, and services. Early in the diagnostic process doctors often order a special blood test called a CK level. The Muscular Dystrophy Association (MDA) is a qualified 501(c)(3) tax-exempt organization. Symptoms of Muscular Dystrophy. To view a presentation by a genetic counselor, see the August 2012 video Genetics of BMD: Why Your Mutation Matters. For carrier females, CK levels can vary between twice the normal concentration and up to 10 times the normal concentration.2. (HPO). Damaged muscles release enzymes, such as creatine kinase (CK), into your blood. Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by mutations in the DMD gene. en español Distrofia muscular de Becker What Is Becker Muscular Dystrophy? The term muscular dystrophy (MD) comprises various neuromuscular disorders that are characterised by progressive muscle weakness affecting certain muscle groups, which are specific for the respective genetic disorder. gene. Research helps us better understand diseases and can lead to advances in diagnosis and treatment. BMD is an inherited disease with a male distribution pattern and a clinical picture similar to that of Duchenne muscular dystrophy … Some types are also associated with problems in other organs. Privacy Policy | Terms of Use | State Fundraising Notices. Participants with a history of migraine headaches … If they are, they have a 50% chance to give birth to children who are themselves carriers or who will develop BMD. The aim of this study is to identify pathogenic DMD variants in probands and reduce the risk of recurrence of the disease in affected families. The diagnosis of Becker muscular dystrophy is based on physical symptoms, family history, an elevated concentration of creatine kinase (CK) in the blood indicating destruction of muscle, and … People with the same disease may not have Questions sent to GARD may be posted here if the information could be helpful to others. The diagnosis of Becker muscular dystrophy (BMD) may vary greatly. Living with a genetic or rare disease can impact the daily lives of patients and families. Benign pseudohypertrophic muscular dystrophy; Becker's muscular dystrophy; Muscular dystrophy, Becker type; Benign pseudohypertrophic muscular dystrophy; Becker's muscular dystrophy; Muscular dystrophy, Becker type; Muscular dystrophy pseudohypertrophic progressive, Becker type; Becker dystrophinopathy, hat shows significant promise in treating the disease, In about two thirds of cases, an affected male inherits the mutation from his mother who carries a mutated copy of the. These children at first may appear clumsy and later may be diagnosed as suffering from Becker muscular dystrophy.. Do you know of a review article? Indeed, some of these patients don’t reach their developmental milestones and some find out that they can’t keep up during their physical education classes or during military training.1. Affected people are encouraged to remain active, because inactivity (such as bed rest) can make the muscle disease worse. Becker muscular dystrophy is a genetic condition – it is caused by a mutation or mistake in the genetic code (DNA). If you can’t find a specialist in your local area, try contacting national or international specialists. Symptoms most often appear in boys between ages 5 and 15, but may begin later. Indeed, some of these patients don’t … Get the latest research information from NIH: https://www.nih.gov/coronavirus (link is external). ©2021, Muscular Dystrophy Association Inc. All rights reserved. This information comes from a database called the Human Phenotype Ontology Use the HPO ID to access more in-depth information about a symptom. As age progresses Becker muscular dystrophy leads to severe muscular degeneration and hence, the patients need a cane or a wheelchair. Early diagnosis of cardiac involvement may permit earlier institution of heart failure treatment and extend life span in these patients. He or she will look for muscle weakness, wasting and myotonia. The clinical distinction between the 2 conditions is relatively easy … We remove all identifying information when posting a question to protect your privacy. This means that Becker Muscular Dystrophy, or a subtype of Becker Muscular Dystrophy, affects less than 200,000 people in the US population. Becker Muscular Dystrophy. BMD has sometimes been misdiagnosed as Duchenne muscular dystrophy (DMD) or limb-girdle muscular dystrophy (LGMD). Exams in a person with BMD may reveal:[3], Laboratory tests that help confirm the diagnosis include:[3]. This section provides resources to help you learn about medical research and ways to get involved. Signs and symptoms are similar to those of Duchenne muscular dystrophy, but tend to be milder and progress more slowly. Muscular dystrophy (MD) is a group of muscle diseases that results in increasing weakening and breakdown of skeletal muscles over time. The incidence (rate of occurrence of new cases) of Becker muscular dystrophy (BMD) has been estimated to be between 1 in 18,000 and 1 in 30,000 male births. Although a number of diagnostic tools can point toward muscular dystrophy, genetic testing is usually the most accurate way to diagnose the disease. Signs of Becker muscular dystrophy often include muscle problems, such as difficulty running, climbing stairs or getting up from the floor. Contact a GARD Information Specialist. (HPO) . We want to hear from you. CK is normally found in muscle, but when muscles are damaged, such as in the case of Becker muscular dystrophy, it leaks into the bloodstream. Congenital Muscular Dystrophy. Your doctor is likely to start with a medical history and physical examination.After that, your doctor may recommend: 1. Social Duchenne is an international project created by Duchenne Data Foundation a worldwide collaboration in order to enhance the understanding of the course of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy, two rare genetic muscle wasting diseases. These clinics are located throughout the country and have specialists that diagnose and treat diseases like Duchenne. Becker muscular dystrophy has some similarities with Duchenne muscular dystrophy, but is comparatively milder than that. -M & Fawcett, P. R. W. Becker-type muscular dystrophy. Stay informed. We also encourage you to explore the rest of this page to find resources that can help you find specialists. Diagnosis. An electrode needle is inserted into the muscle to be tested. Becker muscular dystrophy. Other types don't surface until adulthood.There's no cure for muscular dystrophy. Do you know of an organization? Genetic testing is indicated in patients with high levels of CK and suggestive signs or symptoms of BMD (or DMD). You will also be asked about history of infections and any significant injuries.Your doctor will examine you or your child. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Duchenne or Becker muscular dystrophy. Low levels of dystrophin protein can indicate that a person has certain types of the disease, such as Duchenne muscular dystrophy and Becker muscular dystrophy. Diagnosis. Related diseases are conditions that have similar signs and symptoms. Delayed gross motor milestones (eg, late walking, running, jumping, difficulty with stair climbing) may be reported 2. Inclusion on this list is not an endorsement by GARD. Becker muscular dystrophy is very similar to Duchenne muscular dystrophy. This can occur at any age. Muscular Dystrophy Association Clinics. You may want to review these resources with a medical professional. A 17-year-old male patient who was diagnosed with Becker muscular dystrophy (nonsense mutation [c.3822C>A] within exon 28 of the DMD gene) at 6 years … Muscular dystrophy prognosis varies widely. Duchenne and Becker muscular dystrophies (DMD/BMD) are the most common inherited neuromuscular disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. Becker muscular dystrophy (BMD) is an inherited condition that causes progressive weakness and wasting of the skeletal and cardiac (heart) muscles. You can help advance Becker muscular dystrophy … To help you cope, find someone to talk with. Sometimes, Becker muscular dystrophy can be diagnosed after finding heart problems, with no other muscle symptoms. Becker muscular dystrophy (BMD) is a genetic disorder characterized by progressive weakness and degeneration of the skeletal muscles that control movement. A diagnosis of other neurological diseases or presence of relevant somatic disorders that are not related to Becker muscular dystrophy. 2. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care. Learn more about the MDA; Parent Project Muscular Dystrophy (PPMD). Becker muscular dystrophy (BMD) Other less common types of MD include: Emery-Dreifuss muscular dystrophy (humeroperoneal MD – affecting the arms and distal legs) Limb-girdle muscular dystrophy; Facioscapulohumeral muscular dystrophy (affecting the face, scapula and arms) Aetiology. Duchenne muscular dystrophy and Becker muscular dystrophy are X-linked recessive disorders characterized by progressive proximal muscle weakness caused by muscle fiber degeneration. The second approach is the scanning and sequence analysis of point mutations using multiple available methods. Western blot, a technique for quantifying proteins, may be used in diagnosis as well. Improved diagnosis of Becker muscular dystrophy by dystrophin testing. Becker Muscular Dystrophy is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). G71.01 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes. BMD is an inherited disease with a male distribution pattern and a clinical picture similar to that of Duchenne muscular dystrophy (DMD). The HPO Social Duchenne promotes education and information on psychosocial issues in Duchenne and Becker muscular … As we look forward to bringing you more news this year, we present here the 10 most-read stories of 2020, along with a short summary of what made them relevant to the patient … This disease is caused by … The HPO collects information on symptoms that have been described in medical resources. 2019 - New Code 2020 2021 Billable/Specific Code. Heart muscle also is commonly affected, making cardiac problems a prominent feature of the disease. Activity is encouraged. http://www.ghr.nlm.nih.gov/condition/duchenne-and-becker-muscular-dystrophy, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=262, http://www.nlm.nih.gov/medlineplus/ency/article/000706.htm, http://www.ghr.nlm.nih.gov/condition=duchenneandbeckermusculardystrophy, http://emedicine.medscape.com/article/313417-overview, http://mda.org/disease/becker-muscular-dystrophy/overview, http://emedicine.medscape.com/article/313417-overview#a6, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98895. Becker … It usually depends on the type of MD you have, your age at the time of onset, and rate of progression. A diagnosis of muscular dystrophy can be extremely challenging. Symptoms of the most common variety begin in childhood, mostly in boys. Conditions with similar signs and symptoms from Orphanet. Bradley, W. G., Jones, M. Z., Mussini, J. You can find more tips in our guide, How to Find a Disease Specialist. For most diseases, symptoms will vary from person to person. The main difference is that it gets worse at a much slower rate and it is less common. Most patients are diagnosed by molecular genetic testing without undergoing muscle biopsy because muscle histology for BMD is not specific. In BMD, CK levels, for affected males, are usually elevated above normal levels — up to five times the upper limit of normal levels or more. The history and physical examination can go a long way toward making the diagnosis, even before any complicated diagnostic tests are done. Cardiovascular health supervision for individuals affected by Duchenne or Becker Muscular Dystrophy. The first signs of Becker muscular dystrophy may be trouble walking fast, running, and climbing stairs. Purpose: To determine whether sociodemographic factors are associated with delays at specific steps in the diagnostic process of Duchenne and Becker muscular dystrophy. Becker muscular dystrophy. Becker muscular dystrophy tends to appear later than the most common form of the disease, Duchenne MD (DMD). If your child has muscular dystrophy, ask your doctor about ways to discuss this progressive condition with your child. Symptoms of Becker MD usually begin in childhood, but they're often relatively mild at this point. The doctor will ask about the developmental history. The 2021 edition of ICD-10-CM G71.01 became effective on October 1, 2020. The Duchenne and Becker types of muscular dystrophy are two related conditions that primarily affect skeletal muscles, which are used for movement, and heart (cardiac) muscle. The genetic diagnosis is not easily made because of the large size of the dystrophin gene, complex mutational spectrum and high number of tests patients undergo for diagnosis… Electromyography. While there are many types of this condition, the symptoms and diagnostic tests are often similar. Becker muscular dystrophy is an X-linked recessive inherited disorder characterized by slowly progressing muscle weakness of the legs and pelvis.It is a type of dystrophinopathy. Becker muscular dystrophy (BMD), initially described by Becker and Kiener in 1955, is an inherited disease with a male distribution pattern and a clinical picture similar to that of Duchenne muscular dystrophy (DMD). Diagnosis is suggested clinically and is confirmed by genetic testing or analysis of the protein product (dystrophin) of the mutated gene. Symptoms . [1, 2, 3] BMD is generally milder than DMD, however, and the onset of symptoms usually occurs later. Symptoms … Neurology 1989; 39:1011. For example, a child with the condition may: This type also is seen to be affecting only males. It primarily affects males. Do you have more information about symptoms of this disease? Many factors go into determining the overall life expectancy. Becker MD also affects similar areas of the body to Duchenne MD, although the symptoms tend to be less severe. Becker muscular dystrophy is similar to Duchenne muscular dystrophy, but it’s less severe. This content is not intended to be a substitute for professional medical advice, diagnosis… From OMIM The muscular dystrophy that carries the Becker eponym is similar to Duchenne muscular dystrophy in the distribution of muscle wasting and weakness, which is mainly proximal, but the course is more benign, with age of onset around 12 years; some patients have no symptoms … Get the latest public health information from CDC: https://www.coronavirus.gov (link is external) Try our interactive tool for help finding information, services, experts, financial aid, and more! Another form of muscular dystrophy caused by dystrophin deficiency is the Becker type. In both Duchenne and Becker muscular dystrophy, … placeholder for the horizontal scroll slider, Office of Rare Disease Research Facebook Page, Office of Rare Disease Research on Twitter, U.S. Department of Health & Human Services, Caring for Your Patient with a Rare Disease, Preguntas Más Frecuentes Sobre Enfermedades Raras, Como Encontrar un Especialista en su Enfermedad, Consejos Para una Condición no Diagnosticada, Consejos Para Obtener Ayuda Financiera Para Una Enfermedad, Preguntas Más Frecuentes Sobre los Trastornos Cromosómicos, Human Phenotype Ontology Levels of 20% to 50% of normal dystrophin, or 20% to 100% of abnormal dystrophin, are related to mild to moderate BMD. How can we make GARD better? Elevated circulating creatine phosphokinase, Becker muscular dystrophy (BMD) is caused by specific, Becker muscular dystrophy (BMD) may first be suspected in a person with. When a mutation in the DMD gene is identified, the disease is confirmed. Have a question? These resources can help families navigate various aspects of living with a rare disease. This form of heart disease weakens the cardiac muscle, preventing the heart from pumping blood efficiently. The onset of symptoms … Symptoms generally begin in the teens but might not occur until the mid-20s or later. To get involved, climbing stairs or getting up from the floor the... To review these resources provide more information about a symptom when posting a question to protect your privacy mostly! They inherit the defective gene mutated gene overall life expectancy diagnostic tests are done can... When symptoms begin and pelvic area, try contacting National or international specialists people in the teens but might occur... Progressive proximal muscle weakness, shortness of breath, and services us.. Diagnosis and treatment understand diseases and can lead to advances in diagnosis as well result new... 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