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Disease Profile
Limb-girdle muscular dystrophy type 2I
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.
1-9 / 100 000
Age of onset
Childhood
ICD-10
G71.0
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)
Autosomal recessive limb-girdle muscular dystrophy type 2I; LGMD2I; Limb-girdle muscular dystrophy due to FKRP deficiency;
Categories
Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases
Summary
Limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy, which refers to a group of conditions that cause weakness and wasting of the muscles in the arms and legs. The proximal muscles (those closest to the body such as the upper arms and thighs) are generally most affected by the condition.[1] In LGMD2I, specifically, signs and symptoms often develop in late childhood (average age 11.5 years) and may include difficulty running and walking. The symptoms gradually worsen overtime and affected people generally rely on a wheelchair for mobility approximately 23-26 years after onset.[2] LGMD2I is caused by changes (
Symptoms
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 |
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 |
Muscular dystrophy | 0003560 | |
Proximal muscle weakness |
Weakness in muscles of upper arms and upper legs
|
0003701 |
Reduced muscle fiber alpha dystroglycan | 0030099 | |
30%-79% of people have these symptoms | ||
Abnormality of the Achilles tendon | 0005109 | |
Calf muscle hypertrophy |
Increased size of calf muscles
|
0008981 |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
0003749 | ||
Shoulder girdle muscle weakness |
Weak shoulder muscles
|
0003547 |
Waddling gait |
'Waddling' gait
Waddling walk
[ more ] |
0002515 |
5%-29% of people have these symptoms | ||
Difficulty climbing stairs |
Difficulty walking up stairs
|
0003551 |
Difficulty running | 0009046 | |
Dilated |
Stretched and thinned heart muscle
|
0001644 |
Frequent falls | 0002359 | |
Motor delay | 0001270 | |
Reduced muscle fiber merosin | 0030092 | |
0002650 | ||
1%-4% of people have these symptoms | ||
Exercise-induced myoglobinuria | 0008305 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal left ventricular function | 0005162 | |
Achilles tendon |
Shortening of the achilles tendon
Tight achilles tendon
[ more ] |
0001771 |
0000007 | ||
0003741 | ||
Difficulty walking |
Difficulty in walking
|
0002355 |
Hyperlordosis |
Prominent swayback
|
0003307 |
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ] |
0000158 |
Muscle spasm | 0003394 | |
Myalgia |
Muscle ache
Muscle pain
[ more ] |
0003326 |
Nocturnal hypoventilation | 0002877 | |
Reduced forced vital capacity | 0032341 | |
Restrictive ventilatory defect |
Stiff lung or chest wall causing decreased lung volume
|
0002091 |
Thigh hypertrophy |
Increased thigh size
|
0003733 |
Toe walking |
Toe-walking
|
0040083 |
0003828 | ||
Vertebral fusion |
Spinal fusion
|
0002948 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.
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
-
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/ -
LGMD2i Research Fund
Telephone: (425) 460-2554
E-mail: [email protected]
Website: https://www.lgmd2ifund.org
Social Networking Websites
- Visit the following Facebook groups related to Limb-girdle muscular dystrophy type 2I:
LGMD2I
Organizations Providing General Support
-
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
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference (GHR) contains information on Limb-girdle muscular dystrophy type 2I. 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 2I. Click on the link to view a sample search on this topic.
References
- Limb-girdle muscular dystrophy. Genetics Home Reference (GHR). December 2014; https://ghr.nlm.nih.gov/condition/limb-girdle-muscular-dystrophy.
- Elena Pegoraro & Eric P Hoffman. Limb-Girdle Muscular Dystrophy Overview. GeneReviews. August 30, 2012; https://www.ncbi.nlm.nih.gov/books/NBK1408/. Accessed 5/27/2015.
- Hauerslev S, Sveen ML, Vissing J, Krag TO. Protein turnover and cellular stress in mildly and severely affected muscles from patients with limb girdle muscular dystrophy type 2I. PLoS One. June 2013; 8(6):e66929.