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Disease Profile
Tubular aggregate myopathy
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.
0
Age of onset
Childhood
ICD-10
G71.2
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)
Myopathy, tubular aggregate
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases
Summary
Tubular aggregate myopathy is a disorder that affects the skeletal muscles. Signs and symptoms typically begin in childhood and worsen over time. The leg muscles are most often affected, but the arm muscles may also be involved.[1] Symptoms include muscle pain, cramping, weakness or stiffness; and exercise-induced muscle fatigue.[1][2][3] Affected individuals may have an unusual walking style (gait) or difficulty running, climbing stairs, or getting up from a squatting position. Some individuals develop
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 | ||
EMG: myopathic abnormalities | 0003458 | |
Fatiguable weakness of proximal limb muscles | 0030200 | |
Muscle fiber tubular inclusions | 0100301 | |
Muscle spasm | 0003394 | |
Myalgia |
Muscle ache
Muscle pain
[ more ] |
0003326 |
30%-79% of people have these symptoms | ||
Centrally nucleated skeletal muscle fibers | 0003687 | |
Increased variability in muscle fiber diameter | 0003557 | |
5%-29% of people have these symptoms | ||
Abnormal pupil morphology |
Abnormality of the pupil
Pupillary abnormalities
Pupillary abnormality
[ more ] |
0000615 |
External ophthalmoplegia |
Paralysis or weakness of muscles within or surrounding outer part of eye
|
0000544 |
Flexion contracture |
Flexed joint that cannot be straightened
|
0001371 |
Nyctalopia |
Night blindness
Night-blindness
Poor night vision
[ more ] |
0000662 |
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
Type 2 muscle fiber atrophy | 0003554 | |
Percent of people who have these symptoms is not available through HPO | ||
Adult onset |
Symptoms begin in adulthood
|
0003581 |
Areflexia of lower limbs | 0002522 | |
0000006 | ||
Difficulty running | 0009046 | |
Easy fatigability | 0003388 | |
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 |
Exercise-induced myalgia |
Exercise-induced muscle pain
Muscle pain on exercise
Muscle pain with exercise
Muscle pain, exercise-induced
[ more ] |
0003738 |
Falls | 0002527 | |
Foot dorsiflexor weakness |
Foot drop
|
0009027 |
Frequent falls | 0002359 | |
Generalized muscle weakness | 0003324 | |
Hypocalcemia |
Low blood calcium levels
|
0002901 |
Hyporeflexia of lower limbs | 0002600 | |
Miosis |
Constricted pupils
Pupillary constriction
[ more ] |
0000616 |
Muscle stiffness | 0003552 | |
Myopathy |
Muscle tissue disease
|
0003198 |
Neck muscle weakness |
Floppy neck
|
0000467 |
Proximal amyotrophy |
Wasting of muscles near the body
|
0007126 |
Proximal muscle weakness |
Weakness in muscles of upper arms and upper legs
|
0003701 |
Slow progression |
Signs and symptoms worsen slowly with time
|
0003677 |
Spinal rigidity |
Reduced spine movement
|
0003306 |
0003828 | ||
Weakness of the intrinsic hand muscles | 0009005 |
Cause
Diagnosis
Treatment
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: [email protected]
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.
Where to Start
- Genetics Home Reference (GHR) contains information on Tubular aggregate myopathy. This website is maintained by the National Library of Medicine.
- The Muscular Dystrophy Association has developed a resource called "Facts About Myopathies" that discusses commonly asked questions regarding myopathies. Click on the link above to view this information page.
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.
Tubular aggregate myopathy 1
Tubular aggregate myopathy 2 - 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 Tubular aggregate myopathy. Click on the link to view a sample search on this topic.
References
- Tubular aggregate myopathy. Genetics Home Reference. October, 2014; https://ghr.nlm.nih.gov/condition/tubular-aggregate-myopathy#.
- Gilchrist JM, Ambler M, Agatiello P. Steroid-responsive tubular aggregate myopathy. Muscle & Nerve. 1991 Mar; 14(3):233-6. https://www.ncbi.nlm.nih.gov/pubmed/?term=2041544.
- Chevessier F et al. The origin of tubular aggregates in human myopathies. J Pathol. 2005 Nov; 207(3):313-23. https://www.ncbi.nlm.nih.gov/pubmed/16178054.
- Cassandra L. Kniffin. MYOPATHY, TUBULAR AGGREGATE, 1; TAM1. OMIM. April 7, 2015; https://www.omim.org/entry/160565.
- Cassandra L. Kniffin. MYOPATHY, TUBULAR AGGREGATE, 2; TAM2. OMIM. March 25, 2015; https://omim.org/entry/615883.
- ORAI1. NCBI Gene. December 18, 2016; https://www.ncbi.nlm.nih.gov/gene/84876.
- Böhm J et al. Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. Am J Hum Genet. 2013 Feb; 92(2):271-8. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3567276/. Accessed 8/15/2014.
- Pandit L, Narayanappa G, Bhat I, Thomas V. Autosomal recessive tubular aggregate myopathy in an Indian family. European Journal of Paediatric Neurology. 2009 Jul; 13(4):373-5. https://www.ncbi.nlm.nih.gov/pubmed/?term=18684652. Accessed 8/15/2014.
- Lee JM, Noguchi S. Calcium Dyshomeostasis in Tubular Aggregate Myopathy. Int J Mol Sci. November 22, 2016; 17(11):
- Valeria Beltrame et al. Muscle MR Imaging in Tubular Aggregate Myopathy. PLoS One. 2014; 9(4):e94427.
- Gilchrist JM, Ambler M, Agatiello P. Steroid-responsive tubular aggregate myopathy. Muscle Nerve. 1991 Mar;; 14(3):233-236. https://www.ncbi.nlm.nih.gov/pubmed/2041544.
- Johann Böhm et al. Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1. J Med Genet. 2014; 51:824-833.
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