Limb-girdle muscular dystrophy type 2B

Title

Other Names:

LGMD2B; Muscular dystrophy, limb-girdle, type 3; LGMD3

Categories:

Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases

This disease is grouped under:

Dysferlinopathy; Limb-girdle muscular dystrophy

Summary Summary

Limb-girdle muscular dystrophy type 2B (LGMD2B) is one type of limb-girdle muscular dystrophy. These diseases affect the voluntary muscles, which are the muscles that are moved on purpose, such as the arms, legs, fingers, toes, and facial muscles. Specifically, LGMD2B is a slowly progressive disease that causes muscle weakness and wasting (atrophy) of the pelvic muscles and muscles of the shoulder girdle.^[1] People who are Jewish, and specifically those of Libyan Jewish descent, are more likely to have LGMD2B.^[2]

LGMD2B is caused by variations (also known mutations) in the DYSF gene. The disease is inherited in an autosomal recessive manner. Diagnosis of LGMD2B is suspected in people who have signs and symptoms of the disease, and the diagnosis can be confirmed by a muscle biopsy and genetic testing. While there are no treatments that can reverse the muscle weakness associated with the disease, supportive treatment can decrease complications.^[1]

Last updated: 12/26/2017

Symptoms Symptoms

Limb-girdle muscular dystrophy type 2B (LGMD2B) causes muscle weakness and wasting (atrophy) of the muscles of the pelvis and shoulder girdle. The muscle weakness can cause an inability to tiptoe and difficulty walking and running. In some cases, people with the disease may have enlarged (hypertrophic) calf muscles.^[2] The disease is slowly progressive, meaning the muscle weakness typically worsens over many years.^[1]

The symptoms of LGMD2B typically begin in adolescence or young adulthood.^[1] The age of onset ranges from 15 to 35 years, and the legs are usually the first part of the body affected.^[3] Symptoms that may be common in other types of limb-girdle muscular dystrophy, such as heart (cardiac) and breathing (respiratory) problems, are uncommon in people with LGMD2B.^[2]^[4] The signs and symptoms of people with LGMD2B can vary, even among members of the same family.^[1]

Last updated: 12/26/2017

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.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
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
30%-79% of people have these symptoms
Lower limb muscle weakness	Lower extremity weakness Lower limb weakness Muscle weakness in lower limbs [ more ]	0007340
Proximal muscle weakness in lower limbs		0008994
5%-29% of people have these symptoms
Abnormal EKG	Abnormal ECG	0003115
Calf muscle hypertrophy	Increased size of calf muscles	0008981
Cardiomegaly	Enlarged heart Increased heart size [ more ]	0001640
Difficulty climbing stairs	Difficulty walking up stairs	0003551
Difficulty running		0009046
Hyperlordosis	Prominent swayback	0003307
Muscular edema		0100748
Neck flexor weakness	Neck flexion weakness	0003722
Pes cavus	High-arched foot	0001761
Proximal muscle weakness in upper limbs		0008997
Reduced ejection fraction		0012664
Reduced tendon reflexes		0001315
Right bundle branch block		0011712
Right ventricular hypertrophy		0001667
Scapular winging	Winged shoulder blade	0003691
1%-4% of people have these symptoms
Brachial plexus neuropathy		0045054
Chorea		0002072
Distal upper limb muscle weakness		0008959
Dysphagia	Poor swallowing Swallowing difficulties Swallowing difficulty [ more ]	0002015
Inability to walk		0002540
Limited elbow movement	Decreased elbow mobility Limited elbow mobility Restricted elbow motion [ more ]	0002996
Limited hip movement		0008800
Limited knee flexion/extension		0005085
Pollakisuria	Frequent urination	0100515
Spinal rigidity	Reduced spine movement	0003306
Tip-toe gait	Walking on tiptoes	0030051
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance		0000007
EMG: myopathic abnormalities		0003458
Fatigue	Tired Tiredness [ more ]	0012378
Increased connective tissue		0009025
Increased variability in muscle fiber diameter		0003557
Muscle fiber splitting		0003555
Muscular dystrophy		0003560
Proximal muscle weakness	Weakness in muscles of upper arms and upper legs	0003701
Slow progression	Signs and symptoms worsen slowly with time	0003677

Showing of 38 |

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

Last updated: 12/1/2019

Cause Cause

Limb-girdle muscular dystrophy type 2B (LGMD2B) is caused by changes to the DYSF gene. When a genetic change causes a disease, it is also known as a pathogenic variation. The DYSF gene provides instructions to make a protein called dysferlin. Dysferlin is found in the thin membrane (sarcolemma) that surrounds muscle fibers. Scientists believe dysferlin is involved in repairing muscle fibers damaged naturally through use and may also be involved in the control of muscle inflammation. When there is a pathogenic mutation in the DYSF gene, the instructions to make dysferlin are not correct, which means the protein is either not made at all or the protein that is made cannot do its job properly. Without working dysferlin, the muscles are not able to repair themselves correctly and may become inflamed too easily leading to further damage to the muscle. Over time, this leads to the muscle weakness and wasting associated with LGMD2B.^[1]^[2]

Last updated: 12/26/2017

Inheritance Inheritance

Limb-girdle muscular dystrophy type 2B (LGMD2B), and all subtypes of LGMD type 2, are inherited in an autosomal recessive manner.^[1] This means that people with LGMD2B have pathogenic variations (changes, formerly known as mutations) in both copies of the DYSF gene in each cell of the body. We inherit one copy of each gene from our mother and the other from our father. People who have only one changed copy of the DYSF gene are known as carriers of the disease. Carriers of LGMD2B typically do not have any signs or symptoms of the disease. When two carriers of LGMD2B have children, each child has a:

25% chance to have LGMD2B
50% chance to be a carrier of LGMD2B like each parent
25% chance to have inherited two working copies of the DYSF gene, so he or she is not a carrier and is not affected with the disease

Last updated: 12/26/2017

Diagnosis Diagnosis

Limb-girdle muscular dystrophy (LGMD) is typically suspected when a person develops muscle weakness and wasting in the legs and arms, usually in the areas closest to the hips and shoulders, but not elsewhere in the body. However, it is hard to diagnose which type of LGMD a person may have without further testing. The doctor may wish to take a thorough personal and family history and to run some laboratory tests. These tests may include:^[1]

Electromyography (EMG)
Creatine-kinase levels
Muscle biopsy
Immunoblotting to determine if the dysferlin protein is present at typical levels

Genetic testing of the DYSF gene may be ordered to confirm the diagnosis of LGMD2B and to help identify family members who are carriers of the disease.^[1]

Last updated: 12/26/2017

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.
The Jain Foundation sponsors genetic testing to confirm the diagnosis of dysferlinopathy.

Treatment Treatment

Unfortunately, there is no cure for limb-girdle muscular dystrophy type 2B (LGMD2B). Treatment options that may be recommended for people with LGMD2B may include:^[1]

Weight control to avoid obesity
Physical therapy and stretching exercises
Use of mechanical aids such as canes, walkers, and wheelchairs

It is recommended that people with LGMD2B be provided with social and emotional support to cope with the diagnosis. Other specialists that may be recommended include a neurologist, occupational therapist, nutritionist, and genetic counselor. No currently available medications can relieve or reverse the symptoms associated with LGMD2B. However, research is ongoing to try to determine if treatments such as gene therapy may be helpful in the future.^[5]

Last updated: 12/26/2017

Prognosis Prognosis

In general, limb-girdle muscular dystrophy type 2B (LGMD2B) is a slowly progressive disease, meaning the muscle weakness slowly continues to worsen. Eventually, most people with LGMD2B require a wheelchair, but this may be years after the diagnosis. Muscle weakness affecting the heart muscles or muscles necessary for breathing is uncommon in people with LGMD2B. In rare cases, the progression of the disease may be more rapid, with people requiring a wheelchair in one or two years after symptoms begin.^[2]

Last updated: 12/26/2017

Statistics Statistics

The exact prevalence of limb-girdle muscular dystrophy, type 2B (LGMD2B) is not known.^[1]

Several studies throughout the world have estimated the frequency of LGMDs. Different populations often have different frequencies of the various LGMDs. The overall frequency of all LGMDs has been estimated to be 5-70 people per 1 million in several countries.^[6] This is approximately 1 in 14,286 to 1 in 200,000. Some have estimated a slightly smaller prevalence range, from 1 in 14,500 to 1 in 123,000 people.^[2]

LGMD2B is thought to account for 3-19% of all LGMDs. In many studies, LGMD2A is the most common (accounting for 8-26% of all LGMDs).^[6]

Last updated: 3/21/2016

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.
The Jain Foundation provides a list of doctors who are knowledgeable about diagnosing dysferlinopathy.

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

The Jain Foundation provides information on clinical trials and research studies for dysferlinopathy.

Patient Registry

A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Limb-girdle muscular dystrophy type 2B. 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 Limb-girdle muscular dystrophy type 2B:
Dysferlin 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

Jain Foundation
2310 130th Ave., NE
Suite B101
Bellevue, WA 98005
Telephone: 425-882-1492
E-mail: info@jain-foundation.org
Website: https://www.jain-foundation.org/
Jewish Genetic Disease Consortium (JGDC)
450 West End Ave., 6A
New York, NY 10024
Toll-free: 866-370-GENE (4363)
Telephone: 855-642-6900
Fax: 212-873-7892
E-mail: info@jewishgeneticdiseases.org
Website: http://www.JewishGeneticDiseases.org
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/

Social Networking Websites

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

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 Limb-girdle muscular dystrophy type 2B. 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.
Muscular Dystrophy Association has information and resources about Limb-girdle muscular dystrophy type 2B. Please click on the link to access this resource.
The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
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 Limb-girdle muscular dystrophy type 2B. Click on the link to view a sample search on this topic.

News & Events News & Events

News

Publication Highlights Release of Muscular Dystrophy Action Plan
April 8, 2016

Other Conferences

The Jain Foundation holds an annual conference dedicated to dysferlinopathy research.

GARD Answers GARD Answers

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I wanted to know if this type is always recessive, or can it also be dominant in some cases? And how common or rare is this type? See answer

Have a question? Contact a GARD Information Specialist.

References References

Aoki M. Dysferlinopathy. GeneReviews. March 5, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1303/.
Pegoraro E and Hoffman EP. Limb-Girdle Muscular Dystrophy Overview. GeneReviews. August 30, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1408/.
Basil T Darras. Limb-girdle muscular dystrophy. UpToDate. Waltham, MA: UpToDate; February, 2016;
Autosomal recessive limb-girdle muscular dystrophy type 2B. Orphanet. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=268. Accessed 12/17/2017.
Limb-Girdle Muscular Dystrophy (LGMD). Muscular Dystrophy Association (MDA). https://www.mda.org/disease/limb-girdle-muscular-dystrophy. Accessed 12/17/2017.
Glenn Lopate. Limb-Girdle Muscular Dystrophy. Medscape Reference. October 28, 2014; http://emedicine.medscape.com/article/1170911-overview.