Becker muscular dystrophy
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
Benign pseudohypertrophic muscular dystrophy; Becker's muscular dystrophy; Muscular dystrophy, Becker type;
Congenital and Genetic Diseases; Heart Diseases; Nervous System Diseases;
Becker muscular dystrophy (BMD) is an
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.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Abnormal urinary color||
Abnormal urinary colour
Abnormal urine color
[ more ]
|Difficulty climbing stairs||
Difficulty walking up stairs
Difficulty in walking
|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 creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase
[ more ]
Decreased ability to exercise
Inability to exercise
[ more ]
[ more ]
|30%-79% of people have these symptoms|
|Elevated hepatic transaminase||
High liver enzymes
[ more ]
|5%-29% of people have these symptoms|
[ more ]
|Skeletal muscle atrophy||
[ more ]
|Percent of people who have these symptoms is not available through HPO|
Symptoms begin in adulthood
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
[ more ]
|Calf muscle pseudohypertrophy||0003707|
Disease of the heart muscle
Decreased reflex response
[ more ]
Exams in a person with BMD may reveal:
- Abnormally developed bones, leading to deformities of the chest and back (
- Abnormality of heart muscle function (
- Congestive heart failure or irregular heartbeat (arrhythmias)
- Muscle deformities
Contracturesof 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:
- 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.
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.
Some studies have shown that certain
- Section on Cardiology and Cardiac Surgery. Cardiovascular health supervision for individuals affected by Duchenne or Becker Muscular Dystrophy. Pediatrics 2006; 116: 1569-1573.
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.
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.
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.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- MedlinePlus Genetics contains information on Becker muscular dystrophy. This website is maintained by the National Library of Medicine.
- 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.
- 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.
- Duchenne and Becker muscular dystrophy. Genetics Home Reference (GHR). 2016; https://www.ghr.nlm.nih.gov/condition/duchenne-and-becker-muscular-dystrophy.
- Duchenne and Becker muscular dystrophy. Orphanet. August, 2007; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=262.
- Becker's muscular dystrophy. MedlinePlus. 2016; https://www.nlm.nih.gov/medlineplus/ency/article/000706.htm.
- Duchenne and Becker muscular dystrophy. Genetics Home Reference (GHR). 2016; https://www.ghr.nlm.nih.gov/condition=duchenneandbeckermusculardystrophy.
- Muscular Dystrophy, Becker. National Organization for Rare Disorders (NORD). 2007; https://rarediseases.org/rare-diseases/muscular-dystrophy-becker/.
- Mandac BR. Becker Muscular Dystrophy. Medscape Reference. 2015; https://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; https://www.nlm.nih.gov/medlineplus/ency/article/000706.htm.
- Becker Muscular Dystrophy. Muscular Dystrophy Association. https://mda.org/disease/becker-muscular-dystrophy/overview.
- Benjamin R Mandac. Becker Muscular Dystrophy. Medscape Reference. September 3, 2015; https://emedicine.medscape.com/article/313417-overview#a6.
- Rosaline Quinlivan. Becker muscular dystrophy. Orphanet. September, 2009; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98895.