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Disease Profile
Limb-girdle muscular dystrophy, type 2D
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.
Unknown
Age of onset
Adolescent
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)
LGMD2D; Muscular dystrophy limb-girdle with alpha-sarcoglycan; Alpha-sarcoglycanopathy;
Categories
Congenital and Genetic Diseases; Heart Diseases; Musculoskeletal Diseases;
Summary
Orpha Number: 62
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
|
|---|---|---|
| 30%-79% of people have these symptoms | ||
| Achilles tendon |
Shortening of the achilles tendon
Tight achilles tendon
[ more ] |
0001771 |
| Calf muscle pseudohypertrophy | 0003707 | |
| Difficulty climbing stairs |
Difficulty walking up stairs
|
0003551 |
| 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 |
| Frequent falls | 0002359 | |
| Gowers sign | 0003391 | |
| Hyperlordosis |
Prominent swayback
|
0003307 |
| Limited shoulder movement | 0006467 | |
| Muscular dystrophy | 0003560 | |
| Scapular winging |
Winged shoulder blade
|
0003691 |
| Toe walking |
Toe-walking
|
0040083 |
| Waddling gait |
'Waddling' gait
Waddling walk
[ more ] |
0002515 |
| 5%-29% of people have these symptoms | ||
|
Disease of the heart muscle
|
0001638 | |
| 0002650 | ||
| Thoracic scoliosis | 0002943 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Calf muscle hypertrophy |
Increased size of calf muscles
|
0008981 |
| EMG: myopathic abnormalities | 0003458 | |
| Flexion contracture |
Flexed joint that cannot be straightened
|
0001371 |
| Juvenile onset |
Signs and symptoms begin before 15 years of age
|
0003621 |
| Limb-girdle muscle atrophy |
Wasting of limb-girdle muscle
|
0003797 |
| Limb-girdle muscle weakness | 0003325 | |
| Limb-girdle muscular dystrophy | 0006785 | |
| Progressive |
Worsens with time
|
0003676 |
| Unsteady gait |
Unsteady walk
|
0002317 |
| 0003828 | ||
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 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: resourcecenter@mdausa.org
Website: https://www.mda.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.
In-Depth Information
- 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 2D. Click on the link to view a sample search on this topic.