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Disease Profile
Limb-girdle muscular dystrophy type 1B
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.
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Age of onset
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ICD-10
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Inheritance
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.
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.
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.
Not applicable
Other names (AKA)
LGMD1B; Muscular dystrophy, proximal, type 1B
Categories
Congenital and Genetic Diseases; Heart Diseases; Nervous System Diseases
Summary
Limb-girdle muscular dystrophy type 1B (LGMD1B) is one of many types 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, LGMD1B causes muscle weakness in the lower limbs. The muscle weakness typically affects the muscles closest to the center of the body (proximal muscles) such as the upper legs. The disease is progressive, leading to a loss of muscle strength and bulk over a number of years.[1]
Limb-girdle muscular dystrophy type 1B is caused by
Symptoms
The symptoms of LGMD1B can begin at any time between childhood and adulthood. About half of all affected individuals show signs of the disease in childhood. Other symptoms of the disease may include difficulty straightening the elbows (elbow
Cause
Diagnosis
- Electromyography (EMG)
- Creatine-kinase levels
- Muscle biopsy
Imaging of the heart, such as an echocardiogram
In some cases,
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
- Weight control to avoid obesity
Physical therapy and stretching exercises to preventcontractures of the elbows- Use of mechanical aids such as canes, walkers, and wheelchairs
- Monitoring for evidence of heart problems
In some cases, a pacemaker may be necessary to treat heart problems associated with LGMD1B. It is recommended that people with LGMD1B be provided with social and emotional support to cope with the diagnosis. Other specialists that may be recommended include a
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
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Cure CMD Congenital Muscular Dystrophy
19401 S. Vermont Ave., Suite J100
Torrance, CA 90502
Telephone: 323-250-2399 or 424-265-0874
E-mail: [email protected]
Website: https://www.curecmd.org/
Organizations Providing General Support
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Muscular Dystrophy Association (MDA)
222 S Riverside Plaza
Suite 1500
Chicago, IL 60606
Toll-free: 1-833-275-6321 (Helpline)
E-mail: [email protected]
Website: https://www.mda.org -
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: [email protected]
Website: https://www.musculardystrophyuk.org/
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 1B. This website is maintained by the National Library of Medicine.
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.
- 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 1B. Click on the link to view a sample search on this topic.
References
- Pegoraro E and Hoffman EP. Limb-Girdle Muscular Dystrophy Overview. GeneReviews. August 30, 2012; https://www.ncbi.nlm.nih.gov/books/NBK1408/.
- Limb-girdle muscular dystrophy. Genetics Home Reference (GHR). December 2014; https://ghr.nlm.nih.gov/condition/limb-girdle-muscular-dystrophy.
- Muscular Dystrophy; Limb-Girdle, Type 1B; LGMD1B. Online Mendelian Inheritance in Man. March 27, 2017; https://www.omim.org/entry/159001.
- LMNA gene. Genetics Home Reference (GHR). June 2017; https://ghr.nlm.nih.gov/gene/LMNA.
- Ambrosi P, Mouly-Bandini A, Attarian S, and Habib G. Heart transplantation in 7 patients from a single family with limb-girdle muscular dystrophy caused by lamin A/C mutation. International Journal of Cardiology. November 12, 2009; 137(3):e75-76. https://www.ncbi.nlm.nih.gov/pubmed/19446900.
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