Becker muscular dystrophy

Información en español Title

Other Names:

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 See More

Categories:

Congenital and Genetic Diseases; Heart Diseases; Nervous System Diseases; Congenital and Genetic Diseases; Heart Diseases; Nervous System Diseases; Newborn Screening See More

This disease is grouped under:

Muscular dystrophy

Summary Summary

Becker muscular dystrophy (BMD) is an inherited condition that causes progressive weakness and wasting of the skeletal and cardiac (heart) muscles. It primarily affects males.^[1]^[2] The age of onset and rate of progression can vary. Muscle weakness usually becomes apparent between the ages of 5 and 15. In some cases, heart involvement (cardiomyopathy) is the first sign.^[2] BMD is caused by a mutation in the DMD gene and is inherited in an X-linked recessive manner. BMD is very similar to Duchenne muscular dystrophy, except that in BMD, symptoms begin later and progress at a slower rate.^[1] There is no cure for this condition, but there is ongoing research that shows significant promise in treating the disease. Current treatment aims to relieve symptoms and improve quality of life.^[3] People with BMD may survive into their 40s or beyond.^[1]

Last updated: 9/3/2016

Symptoms Symptoms

The symptoms of Becker muscular dystrophy (BMD) may begin anywhere from childhood to a person's early 20s.^[4]^[5] Muscle weakness often affects the legs and pelvis, and slowly gets worse.^[4] Over time, affected people begin to have difficulty walking, frequent falls, difficulty with muscle skills (such as running, hopping, and jumping), and loss of muscle mass.^[3] Eventually, affected people require a wheelchair.^[5] The condition also affects the heart muscles, causing dilated cardiomyopathy. This form of heart disease enlarges and weakens the heart muscle, preventing it from pumping blood efficiently. Dilated cardiomyopathy progresses rapidly and is life-threatening in many cases.^[4] Other symptoms of BMD may include cognitive problems, fatigue, loss of balance and coordination, problems breathing, and muscle weakness in the arms, neck and other areas of the body.^[3]

Last updated: 9/3/2016

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 23 |

Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormal urinary color	Abnormal urinary colour Abnormal urine color [ more ]	0012086
Difficulty climbing stairs	Difficulty walking up stairs	0003551
Difficulty walking	Difficulty in walking	0002355
Elevated serum creatine kinase	Elevated blood creatine phosphokinase Elevated circulating creatine phosphokinase Elevated creatine kinase Elevated serum CPK Elevated serum creatine phosphokinase High serum creatine kinase Increased CPK Increased creatine kinase Increased creatine phosphokinase Increased serum CK Increased serum creatine kinase Increased serum creatine phosphokinase [ more ]	0003236
Exercise intolerance	Decreased ability to exercise Inability to exercise [ more ]	0003546
Myalgia	Muscle ache Muscle pain [ more ]	0003326
Myoglobinuria		0002913
30%-79% of people have these symptoms
Elevated hepatic transaminase	High liver enzymes	0002910
Falls		0002527
Fatigue	Tired Tiredness [ more ]	0012378
Muscle spasm		0003394
Muscle weakness	Muscular weakness	0001324
5%-29% of people have these symptoms
Pes planus	Flat feet Flat foot [ more ]	0001763
Skeletal muscle atrophy	Muscle degeneration Muscle wasting [ more ]	0003202
Toe walking	Toe-walking	0040083
Percent of people who have these symptoms is not available through HPO
Abnormal EKG	Abnormal ECG	0003115
Adult onset	Symptoms begin in adulthood	0003581
Arrhythmia	Abnormal heart rate Heart rhythm disorders Irregular heart beat Irregular heartbeat [ more ]	0011675
Calf muscle pseudohypertrophy		0003707
Cardiomyopathy	Disease of the heart muscle	0001638
Hyporeflexia	Decreased reflex response Decreased reflexes [ more ]	0001265
Muscular dystrophy		0003560
X-linked recessive inheritance		0001419

Showing of 23 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 7/1/2020

Cause Cause

Becker muscular dystrophy (BMD) is caused by specific mutations in the DMD gene. The DMD gene gives the body instructions to make a protein called dystrophin. This protein helps stabilize and protect muscle fibers and may play a role in chemical signaling within cells. Mutations that lead to an abnormal "version" of dystrophin that allow it to keep some of its function usually cause BMD. Muscle cells without fully functional dystrophin become damaged as muscles contract and relax with use. They then weaken and die over time, leading to the muscle weakness and heart problems in people with BMD.^[4]

Last updated: 9/3/2016

Inheritance Inheritance

Becker muscular dystrophy is inherited in an X-linked recessive manner. A condition is considered X-linked if the mutated gene that causes the condition is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one mutated copy of the gene in each cell is enough to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the condition. Males are affected by X-linked recessive disorders much more frequently than females. A specific characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.^[4]

In X-linked recessive inheritance, a female with one mutated copy of the gene in each cell is called a carrier. Female carriers of X-linked recessive conditions have a 50% (1 in 2) risk to pass on the mutated gene to each child. Male children have a 50% risk to be affected, and female children have a 50% risk to be a carrier. Female carriers usually do not have signs or symptoms of the condition. Occasionally, females who carry a DMD mutation may have muscle weakness and cramping. These symptoms are typically milder than the severe muscle weakness and wasting in affected males. Females who carry a DMD mutation also have an increased risk to develop heart problems, including dilated cardiomyopathy.^[4]

In about two thirds of cases, an affected male inherits the mutation from his mother who carries a mutated copy of the DMD gene. The other third of cases probably result from new mutations in the gene.^[4]

Last updated: 9/3/2016

Diagnosis Diagnosis

Becker muscular dystrophy (BMD) may first be suspected in a person with signs or symptoms of BMD. Healthcare providers will often conduct neurological and muscle exams, as well as order specific laboratory tests. A careful medical history is also important to differentiate between BMD and Duchenne muscular dystrophy.^[3]

Exams in a person with BMD may reveal:^[3]

Abnormally developed bones, leading to deformities of the chest and back (scoliosis)
Abnormality of heart muscle function (cardiomyopathy)
Congestive heart failure or irregular heartbeat (arrhythmias)
Muscle deformities
- Contractures of heels and legs
- Fat and connective tissue (pseudohypertrophy) in calf muscles
Muscle wasting that begins in the legs and pelvis, then progresses to the muscles of the shoulders, neck, arms, and respiratory system

Laboratory tests that help confirm the diagnosis include:^[3]

CPK
Electromyography (EMG)
Muscle biopsy or genetic testing

Last updated: 9/3/2016

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.

Treatment Treatment

There is currently no cure for Becker muscular dystrophy (BMD), and management aims to help with symptoms and improve the quality of life. Affected people are encouraged to remain active, because inactivity (such as bed rest) can make the muscle disease worse.^[3]

Physical therapy can help with stretching tight muscles and using assistive devices; occupational therapy can help with daily living skills; and speech therapy may help those with dysphagia (difficulty swallowing). Surgery may be needed for progressive scoliosis and development of contractures.^[6]

People with BMD should be monitored for orthopedic complications. Cardiac (heart) evaluations are recommended beginning at around 10 years old, or when symptoms first begin. Evaluations should be repeated at least every two years.[7242]

Some studies have shown that certain corticosteroids (such as prednisone or prednisolone) can slow the decline of muscle strength in people with Duchenne muscular dystophy; however, information about their use in people with BMD is limited.[7242] There are a number of additional therapies for BMD being studied.[7242] Potential future treatments for BMD may include gene therapy, exon skipping, ataluren, creatine, deacetylase inhibitors, myostatin inactivation, and cell therapy (myoblast treatment, and/or the use of stem cells).^[6]^[7]

Last updated: 9/3/2016

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.

Prognosis Prognosis

Becker muscular dystrophy (BMD) generally leads to slowly worsening disability, but the amount of disability can vary among affected people. Some men need a wheelchair, while others may only need walking aids such as canes or braces. The lifespan is often shorted due to heart disease and respiratory complications.^[8] Most people with BMD survive well into mid- to late adulthood. If the effects of the condition on the heart are mild, or if they are adequately controlled with medical intervention, a person can have a normal or nearly normal life span.^[9]

Last updated: 9/3/2016

Statistics Statistics

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.^[10]^[11]

Prevalence estimates (all the people affected with BMD at a given time) are relatively broad and the ranges differ depending on the source. According to Medscape Reference, the prevalence of BMD is estimated to be between 17 to 27 cases per million people.^[10] This means that at a given time, about 1 in 37,000 to 1 in 59,000 people are living with BMD. According to Orphanet, the prevalence is estimated to be between around 1 in 11,000 to 1 in 100,000.^[11]

Last updated: 11/4/2015

Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. 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.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes the limb girdle muscular dystrophies, Duchenne muscular dystrophy, malignant hyperthermia and metabolic muscle diseases (see these terms). Visit the Orphanet disease page for more information.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Becker muscular dystrophy. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Becker muscular dystrophy. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

Registries for Becker muscular dystrophy:
The Duchenne Registry

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Muscular Dystrophy Association (MDA)
222 S Riverside Plaza
Suite 1500
Chicago, IL 60606
Toll-free: 1-833-275-6321 (Helpline)
E-mail: resourcecenter@mdausa.org
Website: https://www.mda.org
Muscular Dystrophy Family Foundation
P.O. Box 776
Carmel, IN 46082
Telephone: +1-317-615-9140
E-mail: info@mdff.org
Website: https://mdff.org/
MDFF provides financial assistance, quality programs and services for the Muscular Dystrophy community in Indiana.
Muscular Dystrophy Foundation Australia
36-38 Henley Beach Rd
Mile End, 5031 Australia
Toll-free: 0430-404-332
E-mail: accounts@supportmd.org.au
Website: http://mdaustralia.org.au/
Muscular Dystrophy UK
61A Great Suffolk Street
London, SE1 0BU United Kingdom
Toll-free: 0800 652 6352 (Helpline)
Telephone: (+44) 0 020 7803 4800
E-mail: info@musculardystrophyuk.org
Website: https://www.musculardystrophyuk.org/

Do you know of an organization? We want to hear from you.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Community Resources

The Job Accommodation Network (JAN) has information on workplace accommodations and disability employment issues related to this condition. JAN is a service of the Office of Disability Employment Policy in the U.S. Department of Labor.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Becker muscular dystrophy. This website is maintained by the National Library of Medicine.
MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

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.
Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Becker muscular dystrophy. Click on the link to view a sample search on this topic.

News & Events News & Events

News

NIH-Supported Research Survey to Examine Impact of COVID-19 on Rare Diseases Community
May 22, 2020
NCATS Translational Approach Addresses COVID-19
May 21, 2020

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References References

Duchenne and Becker muscular dystrophy. Genetics Home Reference (GHR). 2016; http://www.ghr.nlm.nih.gov/condition/duchenne-and-becker-muscular-dystrophy.
Duchenne and Becker muscular dystrophy. Orphanet. August, 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=262.
Becker's muscular dystrophy. MedlinePlus. 2016; http://www.nlm.nih.gov/medlineplus/ency/article/000706.htm.
Duchenne and Becker muscular dystrophy. Genetics Home Reference (GHR). 2016; http://www.ghr.nlm.nih.gov/condition=duchenneandbeckermusculardystrophy.
Muscular Dystrophy, Becker. National Organization for Rare Disorders (NORD). 2007; http://rarediseases.org/rare-diseases/muscular-dystrophy-becker/.
Mandac BR. Becker Muscular Dystrophy. Medscape Reference. 2015; http://emedicine.medscape.com/article/313417-overview.
Darras BT. Treatment of Duchenne and Becker Muscular Dystrophy. UpToDate. Waltham, MA: UpToDate; 2016;
Becker Muscular Dystrophy. MedlinePlus. 2016; http://www.nlm.nih.gov/medlineplus/ency/article/000706.htm.
Becker Muscular Dystrophy. Muscular Dystrophy Association. http://mda.org/disease/becker-muscular-dystrophy/overview.
Benjamin R Mandac. Becker Muscular Dystrophy. Medscape Reference. September 3, 2015; http://emedicine.medscape.com/article/313417-overview#a6.
Rosaline Quinlivan. Becker muscular dystrophy. Orphanet. September, 2009; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98895.